Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273648G= , CM000679.2:g.58273648G= | GRCh38 |
| NC_000017.10:g.56351009G= , CM000679.1:g.56351009G= | GRCh37 |
| NC_000017.9:g.53706008G= | NCBI36 |
| NG_009629.1:g.12288C= , LRG_84:g.12288C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.720C= | ||
| ENST00000699291.1:c.512C= | ENSP00000514272.1:p.Pro171= | |
| ENST00000699292.1:n.427C= | ||
| ENST00000225275.4:c.1387C= MANE Select | ENSP00000225275.3:p.Leu463= | |
| ENST00000225275.3:c.1387C= | ENSP00000225275.3:p.Leu463= | |
| NM_000250.1:c.1387C= , LRG_84t1:c.1387C= | NP_000241.1:p.Leu463= | |
| XM_011524821.1:c.1573C= | XP_011523123.1:p.Leu525= | |
| XM_011524822.1:c.1102C= | XP_011523124.1:p.Leu368= | |
| XM_011524823.1:c.1412C= | XP_011523125.1:p.Pro471= | |
| NM_000250.2:c.1387C= MANE Select | NP_000241.1:p.Leu463= |