Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6179957C>T , CM000663.2:g.6179957C>T | GRCh38 |
| NC_000001.10:g.6240017C>T , CM000663.1:g.6240017C>T | GRCh37 |
| NC_000001.9:g.6162604C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015557.3:c.67G>A MANE Select | NP_056372.1:p.Asp23Asn |
| ENST00000262450.8:c.67G>A MANE Select | ENSP00000262450.3:p.Asp23Asn |
| NM_015557.2:c.67G>A | NP_056372.1:p.Asp23Asn |
| ENST00000262450.7:c.67G>A | ENSP00000262450.3:p.Asp23Asn |
| ENST00000484532.6:c.*199+1312G>A | ENSP00000465763.1:n.*199+1312G>A |
| ENST00000496404.1:c.67G>A | ENSP00000433676.1:p.Asp23Asn |