Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112255C= , CM000663.2:g.6112255C= | GRCh38 |
| NC_000001.10:g.6172315C= , CM000663.1:g.6172315C= | GRCh37 |
| NC_000001.9:g.6094902C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5025G= MANE Select | ENSP00000262450.3:p.Lys1675= | |
| ENST00000262450.7:c.5025G= | ENSP00000262450.3:p.Lys1675= | |
| ENST00000377999.5:c.1928G= | ENSP00000367238.2:n.1928G= | |
| ENST00000462991.5:c.3278G= | ||
| ENST00000496404.1:c.3743G= | ENSP00000433676.1:n.3743G= | |
| NM_015557.2:c.5025G= | NP_056372.1:p.Lys1675= | |
| NM_015557.3:c.5025G= MANE Select | NP_056372.1:p.Lys1675= |