Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19704579A>G , CM000686.2:g.19704579A>G | GRCh38 |
| NC_000024.9:g.21866465A>G , CM000686.1:g.21866465A>G | GRCh37 |
| NC_000024.8:g.20325853A>G | NCBI36 |
| NG_032920.1:g.45361T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317961.9:c.*1416T>C MANE Select | ENSP00000322408.4:n.*1416T>C | |
| ENST00000469599.6:n.4787T>C | ||
| NM_001146706.2:c.*1416T>C | NP_001140178.1:n.*1416T>C | |
| NM_004653.5:c.*1416T>C MANE Select | NP_004644.2:n.*1416T>C | |
| NM_001146705.2:c.*1416T>C | NP_001140177.1:n.*1416T>C |