Gene >> HK2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290573 |
| Start |
74867681:74867681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746133519
|
| CDS Mutation |
c.272G>A |
| AA Mutation |
p.Arg91His(p.R91H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290573 |
| Start |
74888001:74888001(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2318C>T |
| AA Mutation |
p.Ser773Leu(p.S773L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |