Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142873612C>T , CM000669.2:g.142873612C>T | GRCh38 |
| NC_000007.13:g.142571365C>T , CM000669.1:g.142571365C>T | GRCh37 |
| NC_000007.12:g.142281487C>T | NCBI36 |
| NG_050669.1:g.17134G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018646.6:c.1744G>A MANE Select | NP_061116.5:p.Asp582Asn |
| ENST00000359396.9:c.1744G>A MANE Select | ENSP00000352358.5:p.Asp582Asn |
| NM_018646.5:c.1744G>A | NP_061116.5:p.Asp582Asn |
| ENST00000359396.7:c.1744G>A | ENSP00000352358.4:p.Asp582Asn |
| ENST00000463646.5:c.1237G>A | ENSP00000479084.1:p.Asp413Asn |
| ENST00000485138.5:n.1354G>A | |
| ENST00000615386.4:n.9385G>A |