Linked Data
dbSNP Id:
rs774452558
ExAC:
1:154543675 A / G
gnomAD v2:
1-154543675-A-G
gnomAD v4:
1-154571199-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571199A>G , CM000663.2:g.154571199A>G | GRCh38 |
| NC_000001.10:g.154543675A>G , CM000663.1:g.154543675A>G | GRCh37 |
| NC_000001.9:g.152810299A>G | NCBI36 |
| NG_008027.1:g.8419A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.376A>G MANE Select | ENSP00000357461.3:p.Met126Val | |
| ENST00000636034.1:c.376A>G | ENSP00000489703.1:p.Met126Val | |
| ENST00000637900.1:c.382A>G | ENSP00000490474.1:p.Met128Val | |
| ENST00000368476.3:c.376A>G | ENSP00000357461.3:p.Met126Val | |
| NM_000748.2:c.376A>G | NP_000739.1:p.Met126Val | |
| XM_017000180.2:c.-9-126A>G | XP_016855669.1:n.-9-126A>G | |
| XR_001736952.2:n.628A>G | ||
| NM_000748.3:c.376A>G MANE Select | NP_000739.1:p.Met126Val |