Gene >> GLB1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307363 |
| Start |
32997164:32997164(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1915G>A |
| AA Mutation |
p.Val639Met(p.V639M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000307363 |
| Start |
33058269:33058269(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.553G>T |
| AA Mutation |
p.Val185Phe(p.V185F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |