Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2435099C>T , CM000681.2:g.2435099C>T | GRCh38 |
| NC_000019.9:g.2435097C>T , CM000681.1:g.2435097C>T | GRCh37 |
| NC_000019.8:g.2386097C>T | NCBI36 |
| NG_008355.1:g.26862G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.757G>A MANE Select | NP_116126.3:p.Asp253Asn |
| ENST00000325327.4:c.757G>A MANE Select | ENSP00000327054.3:p.Asp253Asn |
| NM_032737.3:c.757G>A | NP_116126.3:p.Asp253Asn |
| ENST00000325327.3:c.757G>A | ENSP00000327054.3:p.Asp253Asn |
| ENST00000527409.1:n.393G>A | |
| ENST00000534495.1:n.395G>A | |
| XM_011528378.1:c.757G>A | XP_011526680.1:p.Asp253Asn |
| XM_011528379.1:c.409G>A | XP_011526681.1:p.Asp137Asn |