Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117277064C>T , CM000669.2:g.117277064C>T | GRCh38 |
| NC_000007.13:g.116917118C>T , CM000669.1:g.116917118C>T | GRCh37 |
| NC_000007.12:g.116704354C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003391.3:c.*1091G>A MANE Select | NP_003382.1:n.*1091G>A |
| ENST00000265441.8:c.*1091G>A MANE Select | ENSP00000265441.3:n.*1091G>A |
| NM_003391.2:c.*1091G>A | NP_003382.1:n.*1091G>A |
| NR_024047.1:n.2410G>A | |
| NR_024047.2:n.2179G>A | |
| ENST00000265441.7:c.*1091G>A | ENSP00000265441.3:n.*1091G>A |
| ENST00000647844.1:c.*2089G>A | ENSP00000497695.1:n.*2089G>A |