Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185192256G>C , CM000665.2:g.185192256G>C | GRCh38 |
| NC_000003.11:g.184910044G>C , CM000665.1:g.184910044G>C | GRCh37 |
| NC_000003.10:g.186392738G>C | NCBI36 |
| NG_015999.1:g.66843C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001966.4:c.2142C>G MANE Select | NP_001957.2:p.Ser714Arg |
| ENST00000231887.8:c.2142C>G MANE Select | ENSP00000231887.3:p.Ser714Arg |
| NM_001166415.1:c.1854C>G | NP_001159887.1:p.Ser618Arg |
| NM_001166415.2:c.1854C>G | NP_001159887.1:p.Ser618Arg |
| NM_001966.3:c.2142C>G | NP_001957.2:p.Ser714Arg |
| ENST00000231887.7:c.2142C>G | ENSP00000231887.3:p.Ser714Arg |
| ENST00000456310.5:c.1854C>G | ENSP00000387746.1:p.Ser618Arg |
| XM_006713525.1:c.1518C>G | XP_006713588.1:p.Ser506Arg |
| XM_011512517.1:c.1854C>G | XP_011510819.1:p.Ser618Arg |