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