Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273563G= , CM000679.2:g.58273563G= | GRCh38 |
| NC_000017.10:g.56350924G= , CM000679.1:g.56350924G= | GRCh37 |
| NC_000017.9:g.53705923G= | NCBI36 |
| NG_009629.1:g.12373C= , LRG_84:g.12373C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.805C= | ||
| ENST00000699291.1:c.597C= | ENSP00000514272.1:n.597C= | |
| ENST00000699292.1:n.512C= | ||
| ENST00000225275.4:c.1472C= MANE Select | ENSP00000225275.3:p.Ala491= | |
| ENST00000225275.3:c.1472C= | ENSP00000225275.3:p.Ala491= | |
| NM_000250.1:c.1472C= , LRG_84t1:c.1472C= | NP_000241.1:p.Ala491= | |
| XM_011524821.1:c.1658C= | XP_011523123.1:p.Ala553= | |
| XM_011524822.1:c.1187C= | XP_011523124.1:p.Ala396= | |
| XM_011524823.1:c.*21C= | XP_011523125.1:n.*21C= | |
| NM_000250.2:c.1472C= MANE Select | NP_000241.1:p.Ala491= |