dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.170282835T>C , CM000668.2:g.170282835T>C | GRCh38 |
| NC_000006.11:g.170591923T>C , CM000668.1:g.170591923T>C | GRCh37 |
| NC_000006.10:g.170433848T>C | NCBI36 |
| NG_027940.1:g.12775A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366756.4:c.*39A>G MANE Select | ENSP00000355718.3:n.*39A>G | |
| ENST00000366756.3:c.*39A>G | ENSP00000355718.3:n.*39A>G | |
| NM_005618.3:c.*39A>G | NP_005609.3:n.*39A>G | |
| XM_005266934.2:c.*39A>G | XP_005266991.1:n.*39A>G | |
| XM_011535758.1:c.*39A>G | XP_011534060.1:n.*39A>G | |
| XM_005266934.4:c.*39A>G | XP_005266991.1:n.*39A>G | |
| NM_005618.4:c.*39A>G MANE Select | NP_005609.3:n.*39A>G |