Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86626030C>T , CM000670.2:g.86626030C>T | GRCh38 |
| NC_000008.10:g.87638258C>T , CM000670.1:g.87638258C>T | GRCh37 |
| NC_000008.9:g.87707374C>T | NCBI36 |
| NG_016980.1:g.122646G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.1531G>A MANE Select | NP_061971.3:p.Ala511Thr |
| ENST00000320005.6:c.1531G>A MANE Select | ENSP00000316605.5:p.Ala511Thr |
| NM_019098.4:c.1531G>A | NP_061971.3:p.Ala511Thr |
| ENST00000320005.5:c.1531G>A | ENSP00000316605.5:p.Ala511Thr |
| ENST00000681546.1:n.1351G>A | |
| ENST00000681746.1:c.1531G>A | ENSP00000505959.1:p.Ala511Thr |
| XM_011517138.1:c.1117G>A | XP_011515440.1:p.Ala373Thr |
| XM_011517138.2:c.1117G>A | XP_011515440.1:p.Ala373Thr |
| XR_928378.1:n.67-554C>T | |
| XR_928379.1:n.75-554C>T |