Linked Data
dbSNP Id:
rs1177957902
gnomAD v2:
17-6328743-T-C
gnomAD v3:
17-6425423-T-C
gnomAD v4:
17-6425423-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425423T>C , CM000679.2:g.6425423T>C | GRCh38 |
| NC_000017.10:g.6328743T>C , CM000679.1:g.6328743T>C | GRCh37 |
| NC_000017.9:g.6269467T>C | NCBI36 |
| NG_008474.1:g.14777A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381129.8:c.*37A>G MANE Select | ENSP00000370521.3:n.*37A>G | |
| ENST00000250087.9:c.*37A>G | ENSP00000250087.5:n.*37A>G | |
| ENST00000381128.2:c.*1064A>G | ENSP00000370520.2:n.*1064A>G | |
| ENST00000381129.7:c.*37A>G | ENSP00000370521.3:n.*37A>G | |
| ENST00000570466.5:c.*37A>G | ENSP00000461287.1:n.*37A>G | |
| ENST00000570584.5:c.251+8496A>G | ||
| ENST00000574506.5:c.*37A>G | ENSP00000458456.1:n.*37A>G | |
| ENST00000575265.5:c.*1163A>G | ENSP00000459673.1:n.*1163A>G | |
| ENST00000576307.5:c.*37A>G | ENSP00000459522.1:n.*37A>G | |
| ENST00000576776.5:c.*37A>G | ENSP00000460827.1:n.*37A>G | |
| ENST00000621374.4:c.*210A>G | ENSP00000481337.1:n.*210A>G | |
| NM_001033054.2:c.*37A>G | NP_001028226.1:n.*37A>G | |
| NM_001033055.2:c.*37A>G | NP_001028227.1:n.*37A>G | |
| NM_001285399.2:c.*37A>G | NP_001272328.1:n.*37A>G | |
| NM_001285400.2:c.*37A>G | NP_001272329.1:n.*37A>G | |
| NM_001285401.2:c.*37A>G | NP_001272330.1:n.*37A>G | |
| NM_001285402.1:c.*37A>G | NP_001272331.1:n.*37A>G | |
| NM_014336.4:c.*37A>G | NP_055151.3:n.*37A>G | |
| NM_001033054.3:c.*37A>G | NP_001028226.1:n.*37A>G | |
| NM_001033055.3:c.*37A>G | NP_001028227.1:n.*37A>G | |
| NM_001285399.3:c.*37A>G | NP_001272328.1:n.*37A>G | |
| NM_001285400.3:c.*37A>G | NP_001272329.1:n.*37A>G | |
| NM_001285401.3:c.*37A>G | NP_001272330.1:n.*37A>G | |
| NM_001285402.2:c.*37A>G | NP_001272331.1:n.*37A>G | |
| NM_001285403.3:c.*1163A>G | NP_001272332.1:n.*1163A>G | |
| NM_014336.5:c.*37A>G MANE Select | NP_055151.3:n.*37A>G | |
| NM_001285403.4:c.*1163A>G | NP_001272332.1:n.*1163A>G |