Linked Data
dbSNP Id:
rs761137692
ExAC:
3:186336406 T / G
gnomAD v2:
3-186336406-T-G
gnomAD v4:
3-186618617-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186618617T>G , CM000665.2:g.186618617T>G | GRCh38 |
| NC_000003.11:g.186336406T>G , CM000665.1:g.186336406T>G | GRCh37 |
| NC_000003.10:g.187819100T>G | NCBI36 |
| NG_011436.1:g.10557T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411641.7:c.655T>G MANE Select | ENSP00000393887.2:p.Cys219Gly | |
| ENST00000273784.5:c.658T>G | ENSP00000273784.5:p.Cys220Gly | |
| ENST00000411641.6:c.655T>G | ENSP00000393887.2:p.Cys219Gly | |
| NM_001622.2:c.655T>G | NP_001613.2:p.Cys219Gly | |
| NM_001354571.1:c.658T>G | NP_001341500.1:p.Cys220Gly | |
| NM_001354572.1:c.652T>G | NP_001341501.1:p.Cys218Gly | |
| NM_001354573.1:c.655T>G | NP_001341502.1:p.Cys219Gly | |
| NM_001622.3:c.655T>G | NP_001613.2:p.Cys219Gly | |
| NM_001622.4:c.655T>G MANE Select | NP_001613.2:p.Cys219Gly | |
| NM_001354571.2:c.658T>G | NP_001341500.1:p.Cys220Gly | |
| NM_001354572.2:c.652T>G | NP_001341501.1:p.Cys218Gly | |
| NM_001354573.2:c.655T>G | NP_001341502.1:p.Cys219Gly |