Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128256483A>T , CM000669.2:g.128256483A>T | GRCh38 |
| NC_000007.13:g.127896536A>T , CM000669.1:g.127896536A>T | GRCh37 |
| NC_000007.12:g.127683772A>T | NCBI36 |
| NG_007450.1:g.20206A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000230.3:c.*1720A>T MANE Select | NP_000221.1:n.*1720A>T |
| ENST00000308868.5:c.*1720A>T MANE Select | ENSP00000312652.4:n.*1720A>T |
| NM_000230.2:c.*1720A>T | NP_000221.1:n.*1720A>T |
| ENST00000308868.4:c.*1720A>T | ENSP00000312652.4:n.*1720A>T |
| XM_005250340.3:c.*1720A>T | XP_005250397.1:n.*1720A>T |
| XM_005250340.5:c.*1720A>T | XP_005250397.1:n.*1720A>T |