Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.132785158T>C , CM000672.2:g.132785158T>C | GRCh38 |
| NC_000010.10:g.134598662T>C , CM000672.1:g.134598662T>C | GRCh37 |
| NC_000010.9:g.134448652T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_177400.3:c.592A>G MANE Select | NP_796374.2:p.Asn198Asp |
| ENST00000368592.8:c.592A>G MANE Select | ENSP00000357581.5:p.Asn198Asp |
| NM_177400.2:c.592A>G | NP_796374.1:p.Asn198Asp |
| ENST00000368592.7:c.592A>G | ENSP00000357581.5:p.Asn198Asp |
| XM_017016789.2:c.592A>G | XP_016872278.1:p.Asn198Asp |