Linked Data
dbSNP Id:
rs768027709
ExAC:
1:12252956 G / A
gnomAD v2:
1-12252956-G-A
gnomAD v3:
1-12192899-G-A
gnomAD v4:
1-12192899-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12192899G>A , CM000663.2:g.12192899G>A | GRCh38 |
| NC_000001.10:g.12252956G>A , CM000663.1:g.12252956G>A | GRCh37 |
| NC_000001.9:g.12175543G>A | NCBI36 |
| NG_029791.1:g.30897G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376259.7:c.588G>A MANE Select | ENSP00000365435.3:p.Met196Ile | |
| ENST00000376259.6:c.588G>A | ENSP00000365435.3:p.Met196Ile | |
| ENST00000489921.1:n.300G>A | ||
| ENST00000492361.1:n.577G>A | ||
| NM_001066.2:c.588G>A | NP_001057.1:p.Met196Ile | |
| XM_011542060.1:c.588G>A | XP_011540362.1:p.Met196Ile | |
| XM_011542061.1:c.588G>A | XP_011540363.1:p.Met196Ile | |
| XM_011542062.1:c.567G>A | XP_011540364.1:p.Met189Ile | |
| XM_011542063.1:c.588G>A | XP_011540365.1:p.Met196Ile | |
| XM_011542060.2:c.588G>A | XP_011540362.1:p.Met196Ile | |
| XM_011542063.2:c.588G>A | XP_011540365.1:p.Met196Ile | |
| XM_017002211.1:c.588G>A | XP_016857700.1:p.Met196Ile | |
| XM_017002214.1:c.3G>A | XP_016857703.1:p.Met1Ile | |
| XM_017002215.1:c.3G>A | XP_016857704.1:p.Met1Ile | |
| NM_001066.3:c.588G>A MANE Select | NP_001057.1:p.Met196Ile |