Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19704538A>G , CM000686.2:g.19704538A>G | GRCh38 |
| NC_000024.9:g.21866424A>G , CM000686.1:g.21866424A>G | GRCh37 |
| NC_000024.8:g.20325812A>G | NCBI36 |
| NG_032920.1:g.45402T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004653.5:c.*1457T>C MANE Select | NP_004644.2:n.*1457T>C |
| ENST00000317961.9:c.*1457T>C MANE Select | ENSP00000322408.4:n.*1457T>C |
| NM_001146705.2:c.*1457T>C | NP_001140177.1:n.*1457T>C |
| NM_001146706.2:c.*1457T>C | NP_001140178.1:n.*1457T>C |
| ENST00000469599.6:n.4828T>C |