Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273579C= , CM000679.2:g.58273579C= | GRCh38 |
| NC_000017.10:g.56350940C= , CM000679.1:g.56350940C= | GRCh37 |
| NC_000017.9:g.53705939C= | NCBI36 |
| NG_009629.1:g.12357G= , LRG_84:g.12357G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.789G= | ||
| ENST00000699291.1:c.581G= | ENSP00000514272.1:n.581G= | |
| ENST00000699292.1:n.496G= | ||
| ENST00000225275.4:c.1456G= MANE Select | ENSP00000225275.3:p.Val486= | |
| ENST00000225275.3:c.1456G= | ENSP00000225275.3:p.Val486= | |
| NM_000250.1:c.1456G= , LRG_84t1:c.1456G= | NP_000241.1:p.Val486= | |
| XM_011524821.1:c.1642G= | XP_011523123.1:p.Val548= | |
| XM_011524822.1:c.1171G= | XP_011523124.1:p.Val391= | |
| XM_011524823.1:c.*5G= | XP_011523125.1:n.*5G= | |
| NM_000250.2:c.1456G= MANE Select | NP_000241.1:p.Val486= |