Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154040T>C , CM000681.2:g.55154040T>C | GRCh38 |
| NC_000019.9:g.55665408T>C , CM000681.1:g.55665408T>C | GRCh37 |
| NC_000019.8:g.60357220T>C | NCBI36 |
| NG_007866.2:g.8693A>G , LRG_432:g.8693A>G | |
| NG_011829.2:g.199A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.539A>G MANE Select | ENSP00000341838.5:p.Asp180Gly | |
| ENST00000665070.1:c.572A>G | ENSP00000499482.1:p.Asp191Gly | |
| ENST00000344887.9:c.539A>G | ENSP00000341838.5:p.Asp180Gly | |
| ENST00000585806.5:n.538A>G | ||
| ENST00000588882.1:c.464A>G | ENSP00000466729.1:p.Asp155Gly | |
| ENST00000589864.1:n.367A>G | ||
| NM_000363.4:c.539A>G , LRG_432t1:c.539A>G | NP_000354.4:p.Asp180Gly | |
| NM_000363.5:c.539A>G MANE Select | NP_000354.4:p.Asp180Gly |