Linked Data
dbSNP Id:
rs1452282305
gnomAD v2:
X-43590960-C-T
gnomAD v3:
X-43731713-C-T
gnomAD v4:
X-43731713-C-T
COSMIC:
COSM2965133
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43731713C>T , CM000685.2:g.43731713C>T | GRCh38 |
| NC_000023.10:g.43590960C>T , CM000685.1:g.43590960C>T | GRCh37 |
| NC_000023.9:g.43475904C>T | NCBI36 |
| NG_008957.2:g.80553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.416C>T | ENSP00000440846.1:p.Ala139Val | |
| ENST00000686683.1:c.125C>T | ENSP00000509063.1:p.Ala42Val | |
| ENST00000686980.1:n.947C>T | ||
| ENST00000688006.1:c.416C>T | ENSP00000510311.1:p.Ala139Val | |
| ENST00000688859.1:n.371C>T | ||
| ENST00000689087.1:c.416C>T | ENSP00000508997.1:p.Ala139Val | |
| ENST00000693128.1:c.710C>T | ENSP00000508493.1:p.Ala237Val | |
| ENST00000338702.4:c.815C>T MANE Select | ENSP00000340684.3:p.Ala272Val | |
| ENST00000338702.3:c.815C>T | ENSP00000340684.3:p.Ala272Val | |
| ENST00000542639.5:c.416C>T | ENSP00000440846.1:p.Ala139Val | |
| NM_000240.3:c.815C>T | NP_000231.1:p.Ala272Val | |
| NM_001270458.1:c.416C>T | NP_001257387.1:p.Ala139Val | |
| NM_000240.4:c.815C>T MANE Select | NP_000231.1:p.Ala272Val | |
| NM_001270458.2:c.416C>T | NP_001257387.1:p.Ala139Val |