Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764457G>C , CM000674.2:g.57764457G>C | GRCh38 |
| NC_000012.11:g.58158240G>C , CM000674.1:g.58158240G>C | GRCh37 |
| NC_000012.10:g.56444507G>C | NCBI36 |
| NG_007076.1:g.7737C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.1057C>G MANE Select | NP_000776.1:p.Pro353Ala |
| ENST00000228606.9:c.1057C>G MANE Select | ENSP00000228606.4:p.Pro353Ala |
| NM_000785.3:c.1057C>G | NP_000776.1:p.Pro353Ala |
| ENST00000228606.8:c.1057C>G | ENSP00000228606.4:p.Pro353Ala |
| ENST00000546567.5:c.352C>G | ENSP00000449472.1:p.Pro118Ala |
| ENST00000547344.5:n.1196C>G | |
| ENST00000713544.1:c.1138C>G | ENSP00000518840.1:p.Pro380Ala |
| ENST00000713545.1:c.*62C>G | ENSP00000518841.1:n.*62C>G |