Linked Data
ClinVar Variation Id:
321921
dbSNP Id:
rs373157040
ExAC:
17:1585574 T / C
gnomAD v2:
17-1585574-T-C
gnomAD v3:
17-1682280-T-C
gnomAD v4:
17-1682280-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1682280T>C , CM000679.2:g.1682280T>C | GRCh38 |
| NC_000017.10:g.1585574T>C , CM000679.1:g.1585574T>C | GRCh37 |
| NC_000017.9:g.1532324T>C | NCBI36 |
| NG_009118.1:g.7603A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.283A>G | ENSP00000460849.2:p.Met95Val | |
| ENST00000703538.1:c.*6A>G | ENSP00000515361.1:n.*6A>G | |
| ENST00000703540.1:c.283A>G | ENSP00000515362.1:p.Met95Val | |
| ENST00000703541.1:c.283A>G | ENSP00000515363.1:p.Met95Val | |
| ENST00000703542.1:n.83A>G | ||
| ENST00000304992.11:c.283A>G MANE Select | ENSP00000304350.6:p.Met95Val | |
| ENST00000304992.10:c.283A>G | ENSP00000304350.6:p.Met95Val | |
| ENST00000572621.5:c.283A>G | ENSP00000460348.1:p.Met95Val | |
| ENST00000577001.1:c.270-242A>G | ENSP00000458151.1:n.270-242A>G | |
| NM_006445.3:c.283A>G | NP_006436.3:p.Met95Val | |
| XM_024450537.1:c.283A>G | XP_024306305.1:p.Met95Val | |
| NM_006445.4:c.283A>G MANE Select | NP_006436.3:p.Met95Val |