Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172659066G>A , CM000663.2:g.172659066G>A | GRCh38 |
| NC_000001.10:g.172628206G>A , CM000663.1:g.172628206G>A | GRCh37 |
| NC_000001.9:g.170894829G>A | NCBI36 |
| NG_007269.1:g.5022G>A , LRG_58:g.5022G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000639.2:c.-136G>A | NP_000630.1:n.-136G>A |
| NM_001302746.1:c.-136G>A | NP_001289675.1:n.-136G>A |
| ENST00000367721.2:c.-136G>A | ENSP00000356694.2:n.-136G>A |