Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48497311A>G , CM000677.2:g.48497311A>G | GRCh38 |
| NC_000015.9:g.48789508A>G , CM000677.1:g.48789508A>G | GRCh37 |
| NC_000015.8:g.46576800A>G | NCBI36 |
| NG_008805.2:g.153478T>C , LRG_778:g.153478T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2248T>C | ENSP00000453958.2:p.Cys750Arg | |
| ENST00000674301.2:c.2248T>C | ENSP00000501333.2:p.Cys750Arg | |
| ENST00000684448.1:n.922T>C | ||
| ENST00000316623.10:c.2248T>C MANE Select | ENSP00000325527.5:p.Cys750Arg | |
| ENST00000316623.9:c.2248T>C | ENSP00000325527.5:p.Cys750Arg | |
| ENST00000537463.6:c.637-22661T>C | ENSP00000440294.2:n.637-22661T>C | |
| NM_000138.4:c.2248T>C , LRG_778t1:c.2248T>C | NP_000129.3:p.Cys750Arg | |
| NM_000138.5:c.2248T>C MANE Select | NP_000129.3:p.Cys750Arg |