Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73325378C>T , CM000677.2:g.73325378C>T | GRCh38 |
| NC_000015.9:g.73617719C>T , CM000677.1:g.73617719C>T | GRCh37 |
| NC_000015.8:g.71404772C>T | NCBI36 |
| NG_009063.1:g.48887G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005477.3:c.1657G>A MANE Select | NP_005468.1:p.Asp553Asn |
| ENST00000261917.4:c.1657G>A MANE Select | ENSP00000261917.3:p.Asp553Asn |
| NM_005477.2:c.1657G>A | NP_005468.1:p.Asp553Asn |
| ENST00000261917.3:c.1657G>A | ENSP00000261917.3:p.Asp553Asn |
| XM_011521148.1:c.439G>A | XP_011519450.1:p.Asp147Asn |
| XM_011521148.2:c.439G>A | XP_011519450.1:p.Asp147Asn |