Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273634C= , CM000679.2:g.58273634C= | GRCh38 |
| NC_000017.10:g.56350995C= , CM000679.1:g.56350995C= | GRCh37 |
| NC_000017.9:g.53705994C= | NCBI36 |
| NG_009629.1:g.12302G= , LRG_84:g.12302G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.734G= | ||
| ENST00000699291.1:c.526G= | ENSP00000514272.1:p.Gly176= | |
| ENST00000699292.1:n.441G= | ||
| ENST00000225275.4:c.1401G= MANE Select | ENSP00000225275.3:p.Leu467= | |
| ENST00000225275.3:c.1401G= | ENSP00000225275.3:p.Leu467= | |
| NM_000250.1:c.1401G= , LRG_84t1:c.1401G= | NP_000241.1:p.Leu467= | |
| XM_011524821.1:c.1587G= | XP_011523123.1:p.Leu529= | |
| XM_011524822.1:c.1116G= | XP_011523124.1:p.Leu372= | |
| XM_011524823.1:c.1426G= | XP_011523125.1:p.Gly476= | |
| NM_000250.2:c.1401G= MANE Select | NP_000241.1:p.Leu467= |