Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273666T= , CM000679.2:g.58273666T= | GRCh38 |
| NC_000017.10:g.56351027T= , CM000679.1:g.56351027T= | GRCh37 |
| NC_000017.9:g.53706026T= | NCBI36 |
| NG_009629.1:g.12270A= , LRG_84:g.12270A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.702A= | ||
| ENST00000699291.1:c.494A= | ENSP00000514272.1:p.His165= | |
| ENST00000699292.1:n.409A= | ||
| ENST00000225275.4:c.1369A= MANE Select | ENSP00000225275.3:p.Ile457= | |
| ENST00000225275.3:c.1369A= | ENSP00000225275.3:p.Ile457= | |
| NM_000250.1:c.1369A= , LRG_84t1:c.1369A= | NP_000241.1:p.Ile457= | |
| XM_011524821.1:c.1555A= | XP_011523123.1:p.Ile519= | |
| XM_011524822.1:c.1084A= | XP_011523124.1:p.Ile362= | |
| XM_011524823.1:c.1394A= | XP_011523125.1:p.His465= | |
| NM_000250.2:c.1369A= MANE Select | NP_000241.1:p.Ile457= |