Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19704468C>T , CM000686.2:g.19704468C>T | GRCh38 |
| NC_000024.9:g.21866354C>T , CM000686.1:g.21866354C>T | GRCh37 |
| NC_000024.8:g.20325742C>T | NCBI36 |
| NG_032920.1:g.45472G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317961.9:c.*1527G>A MANE Select | ENSP00000322408.4:n.*1527G>A | |
| ENST00000469599.6:n.4898G>A | ||
| NM_001146706.2:c.*1527G>A | NP_001140178.1:n.*1527G>A | |
| NM_004653.5:c.*1527G>A MANE Select | NP_004644.2:n.*1527G>A | |
| NM_001146705.2:c.*1527G>A | NP_001140177.1:n.*1527G>A |