Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160127557G>A , CM000663.2:g.160127557G>A | GRCh38 |
| NC_000001.10:g.160097347G>A , CM000663.1:g.160097347G>A | GRCh37 |
| NC_000001.9:g.158363971G>A | NCBI36 |
| NG_008014.1:g.16800G>A , LRG_6:g.16800G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.754G>A MANE Select | ENSP00000354490.3:p.Ala252Thr | |
| ENST00000361216.7:c.754G>A | ENSP00000354490.3:p.Ala252Thr | |
| ENST00000392233.7:c.754G>A | ENSP00000376066.3:p.Ala252Thr | |
| ENST00000472488.5:n.857G>A | ||
| NM_000702.3:c.754G>A | NP_000693.1:p.Ala252Thr | |
| NM_000702.4:c.754G>A MANE Select | NP_000693.1:p.Ala252Thr |