Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14142258A>G , CM000665.2:g.14142258A>G | GRCh38 |
| NC_000003.11:g.14183758A>G , CM000665.1:g.14183758A>G | GRCh37 |
| NC_000003.10:g.14158759A>G | NCBI36 |
| NG_008975.1:g.22319A>G , LRG_435:g.22319A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1696A>G | ENSP00000395617.1:n.*1696A>G | |
| ENST00000306077.5:c.*463A>G MANE Select | ENSP00000303992.5:n.*463A>G | |
| ENST00000306077.4:c.*463A>G | ENSP00000303992.4:n.*463A>G | |
| ENST00000601399.3:n.327+2961A>G | ||
| ENST00000608606.1:c.236+2961A>G | ||
| ENST00000626721.1:n.226+305A>G | ||
| NM_024334.2:c.*463A>G , LRG_435t1:c.*463A>G | NP_077310.1:n.*463A>G | |
| XM_011534109.1:c.*463A>G | XP_011532411.1:n.*463A>G | |
| XM_017007176.2:c.*463A>G | XP_016862665.1:n.*463A>G | |
| NM_024334.3:c.*463A>G MANE Select | NP_077310.1:n.*463A>G |