Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273626G= , CM000679.2:g.58273626G= | GRCh38 |
| NC_000017.10:g.56350987G= , CM000679.1:g.56350987G= | GRCh37 |
| NC_000017.9:g.53705986G= | NCBI36 |
| NG_009629.1:g.12310C= , LRG_84:g.12310C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.742C= | ||
| ENST00000699291.1:c.534C= | ENSP00000514272.1:p.Asn178= | |
| ENST00000699292.1:n.449C= | ||
| ENST00000225275.4:c.1409C= MANE Select | ENSP00000225275.3:p.Thr470= | |
| ENST00000225275.3:c.1409C= | ENSP00000225275.3:p.Thr470= | |
| NM_000250.1:c.1409C= , LRG_84t1:c.1409C= | NP_000241.1:p.Thr470= | |
| XM_011524821.1:c.1595C= | XP_011523123.1:p.Thr532= | |
| XM_011524822.1:c.1124C= | XP_011523124.1:p.Thr375= | |
| XM_011524823.1:c.1434C= | XP_011523125.1:p.Asn478= | |
| NM_000250.2:c.1409C= MANE Select | NP_000241.1:p.Thr470= |