Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81701064C>T , CM000669.2:g.81701064C>T | GRCh38 |
| NC_000007.13:g.81330380C>T , CM000669.1:g.81330380C>T | GRCh37 |
| NC_000007.12:g.81168316C>T | NCBI36 |
| NG_016274.1:g.74073G>A | |
| NG_016274.2:g.74073G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000601.6:c.*1517G>A MANE Select | NP_000592.3:n.*1517G>A |
| ENST00000222390.11:c.*1517G>A MANE Select | ENSP00000222390.5:n.*1517G>A |
| NM_000601.5:c.*1517G>A | NP_000592.3:n.*1517G>A |
| NM_001010932.2:c.*1517G>A | NP_001010932.1:n.*1517G>A |
| NM_001010932.3:c.*1517G>A | NP_001010932.1:n.*1517G>A |
| ENST00000222390.9:c.*1517G>A | ENSP00000222390.5:n.*1517G>A |
| XM_006715956.2:c.*1517G>A | XP_006716019.1:n.*1517G>A |
| XM_011516115.1:c.*1517G>A | XP_011514417.1:n.*1517G>A |
| XM_011516115.2:c.*1517G>A | XP_011514417.1:n.*1517G>A |