Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44189424C>T , CM000669.2:g.44189424C>T | GRCh38 |
| NC_000007.13:g.44229023C>T , CM000669.1:g.44229023C>T | GRCh37 |
| NC_000007.12:g.44195548C>T | NCBI36 |
| NG_008847.1:g.5000G>A | |
| NG_008847.2:g.13747G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616242.5:c.-471G>A | ENSP00000482149.2:n.-471G>A | |
| ENST00000682635.1:n.16G>A | ||
| ENST00000403799.8:c.-471G>A MANE Select | ENSP00000384247.3:n.-471G>A | |
| ENST00000671824.1:c.-471G>A | ENSP00000500264.1:n.-471G>A | |
| ENST00000673284.1:c.-471G>A | ENSP00000499852.1:n.-471G>A | |
| ENST00000476008.1:n.480+8267G>A | ||
| NM_000162.4:c.-471G>A | NP_000153.1:n.-471G>A | |
| NM_001354800.1:c.-471G>A | NP_001341729.1:n.-471G>A | |
| NM_000162.5:c.-471G>A MANE Select | NP_000153.1:n.-471G>A |