Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77518061G>A , CM000676.2:g.77518061G>A | GRCh38 |
| NC_000014.8:g.77984404G>A , CM000676.1:g.77984404G>A | GRCh37 |
| NC_000014.7:g.77054157G>A | NCBI36 |
| NG_028282.1:g.103707C>T , LRG_371:g.103707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.578C>T | ||
| ENST00000687688.1:n.1309C>T | ||
| ENST00000692906.1:n.1278C>T | ||
| ENST00000216484.7:c.1546C>T MANE Select | ENSP00000216484.2:p.His516Tyr | |
| ENST00000216484.6:c.1546C>T | ENSP00000216484.2:p.His516Tyr | |
| ENST00000556607.1:c.374C>T | ENSP00000451029.1:n.374C>T | |
| NM_004863.3:c.1546C>T , LRG_371t1:c.1546C>T | NP_004854.1:p.His516Tyr | |
| NM_004863.4:c.1546C>T MANE Select | NP_004854.1:p.His516Tyr |