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