Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15159825C>T , CM000681.2:g.15159825C>T | GRCh38 |
| NC_000019.9:g.15270636C>T , CM000681.1:g.15270636C>T | GRCh37 |
| NC_000019.8:g.15131636C>T | NCBI36 |
| NG_009819.1:g.46157G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000435.3:c.*837G>A MANE Select | NP_000426.2:n.*837G>A |
| ENST00000263388.7:c.*837G>A MANE Select | ENSP00000263388.1:n.*837G>A |
| NM_000435.2:c.*837G>A | NP_000426.2:n.*837G>A |
| ENST00000263388.6:c.*837G>A | ENSP00000263388.1:n.*837G>A |
| XM_005259924.3:c.*837G>A | XP_005259981.1:n.*837G>A |
| XM_005259924.4:c.*837G>A | XP_005259981.1:n.*837G>A |