Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633326T>C , CM000665.2:g.120633326T>C | GRCh38 |
| NC_000003.11:g.120352173T>C , CM000665.1:g.120352173T>C | GRCh37 |
| NC_000003.10:g.121834863T>C | NCBI36 |
| NG_011957.1:g.54156A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1009A>G MANE Select | NP_000178.2:p.Asn337Asp |
| ENST00000283871.10:c.1009A>G MANE Select | ENSP00000283871.5:p.Asn337Asp |
| NM_000187.3:c.1009A>G | NP_000178.2:p.Asn337Asp |
| ENST00000283871.9:c.1009A>G | ENSP00000283871.5:p.Asn337Asp |
| ENST00000470321.1:n.349A>G | |
| ENST00000492108.5:c.288A>G | ENSP00000419838.1:p.Gly96= |
| XM_005247412.1:c.784A>G | XP_005247469.1:p.Asn262Asp |
| XM_005247412.2:c.784A>G | XP_005247469.1:p.Asn262Asp |
| XM_017006277.2:c.586A>G | XP_016861766.1:p.Asn196Asp |