Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185192984C>G , CM000665.2:g.185192984C>G | GRCh38 |
| NC_000003.11:g.184910772C>G , CM000665.1:g.184910772C>G | GRCh37 |
| NC_000003.10:g.186393466C>G | NCBI36 |
| NG_015999.1:g.66115G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.1414G>C MANE Select | ENSP00000231887.3:p.Val472Leu | |
| ENST00000231887.7:c.1414G>C | ENSP00000231887.3:p.Val472Leu | |
| ENST00000456310.5:c.1126G>C | ENSP00000387746.1:p.Val376Leu | |
| NM_001166415.1:c.1126G>C | NP_001159887.1:p.Val376Leu | |
| NM_001966.3:c.1414G>C | NP_001957.2:p.Val472Leu | |
| XM_006713525.1:c.790G>C | XP_006713588.1:p.Val264Leu | |
| XM_011512517.1:c.1126G>C | XP_011510819.1:p.Val376Leu | |
| NM_001966.4:c.1414G>C MANE Select | NP_001957.2:p.Val472Leu | |
| NM_001166415.2:c.1126G>C | NP_001159887.1:p.Val376Leu |