Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86626051T>C , CM000670.2:g.86626051T>C | GRCh38 |
| NC_000008.10:g.87638279T>C , CM000670.1:g.87638279T>C | GRCh37 |
| NC_000008.9:g.87707395T>C | NCBI36 |
| NG_016980.1:g.122625A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.1510A>G MANE Select | NP_061971.3:p.Thr504Ala |
| ENST00000320005.6:c.1510A>G MANE Select | ENSP00000316605.5:p.Thr504Ala |
| NM_019098.4:c.1510A>G | NP_061971.3:p.Thr504Ala |
| ENST00000320005.5:c.1510A>G | ENSP00000316605.5:p.Thr504Ala |
| ENST00000681546.1:n.1330A>G | |
| ENST00000681746.1:c.1510A>G | ENSP00000505959.1:p.Thr504Ala |
| XM_011517138.1:c.1096A>G | XP_011515440.1:p.Thr366Ala |
| XM_011517138.2:c.1096A>G | XP_011515440.1:p.Thr366Ala |
| XR_928378.1:n.67-533T>C | |
| XR_928379.1:n.75-533T>C |