Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273558C= , CM000679.2:g.58273558C= | GRCh38 |
| NC_000017.10:g.56350919C= , CM000679.1:g.56350919C= | GRCh37 |
| NC_000017.9:g.53705918C= | NCBI36 |
| NG_009629.1:g.12378G= , LRG_84:g.12378G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.810G= | ||
| ENST00000699291.1:c.602G= | ENSP00000514272.1:n.602G= | |
| ENST00000699292.1:n.517G= | ||
| ENST00000225275.4:c.1477G= MANE Select | ENSP00000225275.3:p.Val493= | |
| ENST00000225275.3:c.1477G= | ENSP00000225275.3:p.Val493= | |
| NM_000250.1:c.1477G= , LRG_84t1:c.1477G= | NP_000241.1:p.Val493= | |
| XM_011524821.1:c.1663G= | XP_011523123.1:p.Val555= | |
| XM_011524822.1:c.1192G= | XP_011523124.1:p.Val398= | |
| XM_011524823.1:c.*26G= | XP_011523125.1:n.*26G= | |
| NM_000250.2:c.1477G= MANE Select | NP_000241.1:p.Val493= |