Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816662G= , CM000681.2:g.4816662G= | GRCh38 |
| NC_000019.9:g.4816674G= , CM000681.1:g.4816674G= | GRCh37 |
| NC_000019.8:g.4767674G= | NCBI36 |
| NG_031998.1:g.20081C= , LRG_358:g.20081C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1716C= MANE Select | ENSP00000248244.4:p.Ala572= | |
| ENST00000248244.5:c.1716C= | ENSP00000248244.4:p.Ala572= | |
| ENST00000621756.1:c.1299C= | ENSP00000479467.1:p.Ala433= | |
| NM_182919.3:c.1716C= , LRG_358t1:c.1716C= | NP_891549.1:p.Ala572= | |
| NM_001385678.1:c.1674C= | NP_001372607.1:p.Ala558= | |
| NM_001385679.1:c.1581C= | NP_001372608.1:p.Ala527= | |
| NM_001385680.1:c.1074C= | NP_001372609.1:p.Ala358= | |
| NM_182919.4:c.1716C= MANE Select | NP_891549.1:p.Ala572= |