Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6084083A>G , CM000682.2:g.6084083A>G | GRCh38 |
| NC_000020.10:g.6064730A>G , CM000682.1:g.6064730A>G | GRCh37 |
| NC_000020.9:g.6012730A>G | NCBI36 |
| NG_016213.1:g.44462T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699095.1:c.1675T>C | ENSP00000514127.1:p.Trp559Arg | |
| ENST00000217289.9:c.1675T>C MANE Select | ENSP00000217289.4:p.Trp559Arg | |
| ENST00000217289.8:c.1675T>C | ENSP00000217289.4:p.Trp559Arg | |
| ENST00000478194.1:n.635T>C | ||
| ENST00000536936.1:c.904T>C | ENSP00000441063.1:p.Trp302Arg | |
| NM_017671.4:c.1675T>C | NP_060141.3:p.Trp559Arg | |
| XM_024451935.1:c.1675T>C | XP_024307703.1:p.Trp559Arg | |
| NM_017671.5:c.1675T>C MANE Select | NP_060141.3:p.Trp559Arg |