Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185192826A>C , CM000665.2:g.185192826A>C | GRCh38 |
| NC_000003.11:g.184910614A>C , CM000665.1:g.184910614A>C | GRCh37 |
| NC_000003.10:g.186393308A>C | NCBI36 |
| NG_015999.1:g.66273T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001966.4:c.1572T>G MANE Select | NP_001957.2:p.Leu524= |
| ENST00000231887.8:c.1572T>G MANE Select | ENSP00000231887.3:p.Leu524= |
| NM_001166415.1:c.1284T>G | NP_001159887.1:p.Leu428= |
| NM_001166415.2:c.1284T>G | NP_001159887.1:p.Leu428= |
| NM_001966.3:c.1572T>G | NP_001957.2:p.Leu524= |
| ENST00000231887.7:c.1572T>G | ENSP00000231887.3:p.Leu524= |
| ENST00000456310.5:c.1284T>G | ENSP00000387746.1:p.Leu428= |
| XM_006713525.1:c.948T>G | XP_006713588.1:p.Leu316= |
| XM_011512517.1:c.1284T>G | XP_011510819.1:p.Leu428= |