Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185192320T>C , CM000665.2:g.185192320T>C | GRCh38 |
| NC_000003.11:g.184910108T>C , CM000665.1:g.184910108T>C | GRCh37 |
| NC_000003.10:g.186392802T>C | NCBI36 |
| NG_015999.1:g.66779A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001966.4:c.2078A>G MANE Select | NP_001957.2:p.Glu693Gly |
| ENST00000231887.8:c.2078A>G MANE Select | ENSP00000231887.3:p.Glu693Gly |
| NM_001166415.1:c.1790A>G | NP_001159887.1:p.Glu597Gly |
| NM_001166415.2:c.1790A>G | NP_001159887.1:p.Glu597Gly |
| NM_001966.3:c.2078A>G | NP_001957.2:p.Glu693Gly |
| ENST00000231887.7:c.2078A>G | ENSP00000231887.3:p.Glu693Gly |
| ENST00000456310.5:c.1790A>G | ENSP00000387746.1:p.Glu597Gly |
| XM_006713525.1:c.1454A>G | XP_006713588.1:p.Glu485Gly |
| XM_011512517.1:c.1790A>G | XP_011510819.1:p.Glu597Gly |