Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107695952G= , CM000669.2:g.107695952G= | GRCh38 |
| NC_000007.13:g.107336397G= , CM000669.1:g.107336397G= | GRCh37 |
| NC_000007.12:g.107123633G= | NCBI36 |
| NG_008489.1:g.40318G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1457G= MANE Select | ENSP00000494017.1:p.Cys486= | |
| ENST00000644846.1:c.168G= | ||
| ENST00000265715.7:c.1457G= | ENSP00000265715.3:p.Cys486= | |
| ENST00000460748.1:n.560G= | ||
| ENST00000477350.5:n.304G= | ||
| ENST00000480841.5:n.306G= | ||
| ENST00000497446.5:n.472G= | ||
| NM_000441.1:c.1457G= | NP_000432.1:p.Cys486= | |
| XM_005250425.1:c.1457G= | XP_005250482.1:p.Cys486= | |
| XM_005250425.2:c.1457G= | XP_005250482.1:p.Cys486= | |
| XM_017012318.1:c.1379G= | XP_016867807.1:p.Cys460= | |
| NM_000441.2:c.1457G= MANE Select | NP_000432.1:p.Cys486= |