Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77518064C>T , CM000676.2:g.77518064C>T | GRCh38 |
| NC_000014.8:g.77984407C>T , CM000676.1:g.77984407C>T | GRCh37 |
| NC_000014.7:g.77054160C>T | NCBI36 |
| NG_028282.1:g.103704G>A , LRG_371:g.103704G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.575G>A | ||
| ENST00000687688.1:n.1306G>A | ||
| ENST00000692906.1:n.1275G>A | ||
| ENST00000216484.7:c.1543G>A MANE Select | ENSP00000216484.2:p.Ala515Thr | |
| ENST00000216484.6:c.1543G>A | ENSP00000216484.2:p.Ala515Thr | |
| ENST00000556607.1:c.371G>A | ENSP00000451029.1:n.371G>A | |
| NM_004863.3:c.1543G>A , LRG_371t1:c.1543G>A | NP_004854.1:p.Ala515Thr | |
| NM_004863.4:c.1543G>A MANE Select | NP_004854.1:p.Ala515Thr |