Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782557T>C , CM000663.2:g.58782557T>C | GRCh38 |
| NC_000001.10:g.59248229T>C , CM000663.1:g.59248229T>C | GRCh37 |
| NC_000001.9:g.59020817T>C | NCBI36 |
| NG_047027.1:g.6557A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.580A>G | ENSP00000518166.1:p.Asn194Asp | |
| ENST00000371222.4:c.514A>G MANE Select | ENSP00000360266.2:p.Asn172Asp | |
| ENST00000678696.1:c.514A>G | ENSP00000503132.1:p.Asn172Asp | |
| ENST00000371222.3:c.514A>G | ENSP00000360266.2:p.Asn172Asp | |
| NM_002228.3:c.514A>G | NP_002219.1:p.Asn172Asp | |
| NM_002228.4:c.514A>G MANE Select | NP_002219.1:p.Asn172Asp |