Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164979145T>G , CM000665.2:g.164979145T>G | GRCh38 |
| NC_000003.11:g.164696933T>G , CM000665.1:g.164696933T>G | GRCh37 |
| NC_000003.10:g.166179627T>G | NCBI36 |
| NG_017043.1:g.104351A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.*217A>C MANE Select | ENSP00000264382.3:n.*217A>C | |
| ENST00000264382.7:c.*217A>C | ENSP00000264382.3:n.*217A>C | |
| NM_001041.3:c.*217A>C | NP_001032.2:n.*217A>C | |
| XM_011513078.1:c.*217A>C | XP_011511380.1:n.*217A>C | |
| XM_011513078.2:c.*217A>C | XP_011511380.1:n.*217A>C | |
| NM_001041.4:c.*217A>C MANE Select | NP_001032.2:n.*217A>C |