Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2235298C>T , CM000669.2:g.2235298C>T | GRCh38 |
| NC_000007.13:g.2274933C>T , CM000669.1:g.2274933C>T | GRCh37 |
| NC_000007.12:g.2241459C>T | NCBI36 |
| NG_011518.1:g.2651G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013393.3:c.565G>A MANE Select | NP_037525.1:p.Gly189Arg |
| ENST00000242257.14:c.565G>A MANE Select | ENSP00000242257.8:p.Gly189Arg |
| NM_013393.1:c.565G>A | NP_037525.1:p.Gly189Arg |
| ENST00000242257.12:c.565G>A | ENSP00000242257.8:p.Gly189Arg |
| ENST00000407040.1:c.283G>A | ENSP00000384423.1:p.Gly95Arg |
| ENST00000440306.3:c.565G>A | ENSP00000392343.3:p.Gly189Arg |
| ENST00000467199.5:n.752G>A | |
| ENST00000486040.1:n.1508G>A | |
| ENST00000651235.1:c.*1020G>A | ENSP00000498895.1:n.*1020G>A |