Linked Data
dbSNP Id:
rs774006570
ExAC:
3:39436001 A / G
gnomAD v2:
3-39436001-A-G
gnomAD v4:
3-39394510-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39394510A>G , CM000665.2:g.39394510A>G | GRCh38 |
| NC_000003.11:g.39436001A>G , CM000665.1:g.39436001A>G | GRCh37 |
| NC_000003.10:g.39411005A>G | NCBI36 |
| NG_016931.1:g.16187A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642683.1:c.678A>G | ENSP00000495376.1:p.Lys226= | |
| ENST00000643672.1:c.675A>G | ENSP00000494532.1:p.Lys225= | |
| ENST00000645280.1:c.672A>G | ENSP00000496690.1:p.Lys224= | |
| ENST00000648579.1:c.*23A>G | ENSP00000497638.1:n.*23A>G | |
| ENST00000650617.1:c.726A>G MANE Select | ENSP00000497532.1:p.Lys242= | |
| ENST00000273158.8:c.726A>G | ENSP00000273158.3:p.Lys242= | |
| NM_017875.2:c.726A>G | NP_060345.2:p.Lys242= | |
| XM_006713214.1:c.714A>G | XP_006713277.1:p.Lys238= | |
| XM_011533869.1:c.708A>G | XP_011532171.1:p.Lys236= | |
| XM_011533870.1:c.675A>G | XP_011532172.1:p.Lys225= | |
| XM_011533871.1:c.546A>G | XP_011532173.1:p.Lys182= | |
| NM_001354798.1:c.626-1888A>G | NP_001341727.1:n.626-1888A>G | |
| NM_017875.4:c.726A>G MANE Select | NP_060345.2:p.Lys242= | |
| XM_006713214.2:c.714A>G | XP_006713277.1:p.Lys238= | |
| XM_011533869.2:c.708A>G | XP_011532171.1:p.Lys236= | |
| XM_024453611.1:c.672A>G | XP_024309379.1:p.Lys224= | |
| NM_001354798.2:c.626-1888A>G | NP_001341727.1:n.626-1888A>G |