Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764510C>T , CM000674.2:g.57764510C>T | GRCh38 |
| NC_000012.11:g.58158293C>T , CM000674.1:g.58158293C>T | GRCh37 |
| NC_000012.10:g.56444560C>T | NCBI36 |
| NG_007076.1:g.7684G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.1004G>A MANE Select | NP_000776.1:p.Arg335Gln |
| ENST00000228606.9:c.1004G>A MANE Select | ENSP00000228606.4:p.Arg335Gln |
| NM_000785.3:c.1004G>A | NP_000776.1:p.Arg335Gln |
| ENST00000228606.8:c.1004G>A | ENSP00000228606.4:p.Arg335Gln |
| ENST00000546567.5:c.299G>A | ENSP00000449472.1:p.Arg100Gln |
| ENST00000547344.5:n.1143G>A | |
| ENST00000713544.1:c.1085G>A | ENSP00000518840.1:p.Arg362Gln |
| ENST00000713545.1:c.*9G>A | ENSP00000518841.1:n.*9G>A |