Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43953963C>T , CM000679.2:g.43953963C>T | GRCh38 |
| NC_000017.10:g.42031331C>T , CM000679.1:g.42031331C>T | GRCh37 |
| NC_000017.9:g.39386857C>T | NCBI36 |
| NG_023338.1:g.55507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360085.6:c.-114G>A | ENSP00000353198.1:n.-114G>A | |
| NM_004160.4:c.-114G>A | NP_004151.3:n.-114G>A | |
| XM_011525035.1:c.-114G>A | XP_011523337.1:n.-114G>A | |
| NM_004160.5:c.-114G>A | NP_004151.3:n.-114G>A | |
| NM_004160.6:c.-114G>A | NP_004151.4:n.-114G>A |