dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1225449T>A , CM000667.2:g.1225449T>A | GRCh38 |
| NC_000005.9:g.1225564T>A , CM000667.1:g.1225564T>A | GRCh37 |
| NC_000005.8:g.1278564T>A | NCBI36 |
| NG_008282.1:g.28855T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324642.4:c.-29T>A MANE Select | ENSP00000323549.3:n.-29T>A | |
| ENST00000324642.3:c.-29T>A | ENSP00000323549.3:n.-29T>A | |
| ENST00000513607.2:n.41T>A | ||
| NM_182632.2:c.-29T>A | NP_872438.2:n.-29T>A | |
| NM_182632.3:c.-29T>A MANE Select | NP_872438.2:n.-29T>A |