Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530314G>A , CM000681.2:g.7530314G>A | GRCh38 |
| NC_000019.9:g.7595200G>A , CM000681.1:g.7595200G>A | GRCh37 |
| NC_000019.8:g.7501200G>A | NCBI36 |
| NG_013374.1:g.1163G>A | |
| NG_015806.1:g.12705G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1388G>A MANE Select | ENSP00000264079.5:p.Cys463Tyr | |
| ENST00000264079.10:c.1388G>A | ENSP00000264079.5:p.Cys463Tyr | |
| ENST00000394321.9:n.1703G>A | ||
| ENST00000594692.1:n.384G>A | ||
| ENST00000595860.5:n.571G>A | ||
| ENST00000599334.1:c.237-121G>A | ||
| NM_020533.2:c.1388G>A | NP_065394.1:p.Cys463Tyr | |
| NM_020533.3:c.1388G>A MANE Select | NP_065394.1:p.Cys463Tyr |