Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24338429C>T , CM000676.2:g.24338429C>T | GRCh38 |
| NC_000014.8:g.24807635C>T , CM000676.1:g.24807635C>T | GRCh37 |
| NC_000014.7:g.23877475C>T | NCBI36 |
| NG_046975.1:g.6608G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006871.4:c.610G>A MANE Select | NP_006862.2:p.Val204Ile |
| ENST00000216274.10:c.610G>A MANE Select | ENSP00000216274.5:p.Val204Ile |
| NM_006871.3:c.610G>A | NP_006862.2:p.Val204Ile |
| ENST00000216274.9:c.610G>A | ENSP00000216274.5:p.Val204Ile |
| ENST00000554756.1:c.610G>A | ENSP00000452328.1:p.Val204Ile |
| ENST00000557624.1:n.1246G>A |