Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38666042G>A , CM000664.2:g.38666042G>A | GRCh38 |
| NC_000002.11:g.38893184G>A , CM000664.1:g.38893184G>A | GRCh37 |
| NC_000002.10:g.38746688G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138801.2:c.-120G>A | NP_620156.1:n.-120G>A |
| ENST00000272252.9:c.-120G>A | ENSP00000272252.5:n.-120G>A |
| XM_011532540.1:c.-120G>A | XP_011530842.1:n.-120G>A |
| XM_011532540.2:c.-120G>A | XP_011530842.1:n.-120G>A |
| XR_244925.1:n.133G>A | |
| XR_244925.2:n.121G>A |