Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77518125A= , CM000676.2:g.77518125A= | GRCh38 |
| NC_000014.8:g.77984468A= , CM000676.1:g.77984468A= | GRCh37 |
| NC_000014.7:g.77054221A= | NCBI36 |
| NG_028282.1:g.103643T= , LRG_371:g.103643T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.514T= | ||
| ENST00000687688.1:n.1245T= | ||
| ENST00000692906.1:n.1214T= | ||
| ENST00000216484.7:c.1482T= MANE Select | ENSP00000216484.2:p.Val494= | |
| ENST00000216484.6:c.1482T= | ENSP00000216484.2:p.Val494= | |
| ENST00000556607.1:c.310T= | ENSP00000451029.1:n.310T= | |
| NM_004863.3:c.1482T= , LRG_371t1:c.1482T= | NP_004854.1:p.Val494= | |
| NM_004863.4:c.1482T= MANE Select | NP_004854.1:p.Val494= |