Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200459A>C , CM000666.2:g.134200459A>C | GRCh38 |
| NC_000004.11:g.135121614A>C , CM000666.1:g.135121614A>C | GRCh37 |
| NC_000004.10:g.135341064A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421491.4:c.561T>G MANE Select | ENSP00000463233.1:p.Ser187Arg | |
| ENST00000421491.3:c.561T>G | ENSP00000463233.1:p.Ser187Arg | |
| NM_001114734.1:c.735T>G | NP_001108206.2:p.Ser245Arg | |
| NM_001114734.2:c.561T>G MANE Select | NP_001108206.3:p.Ser187Arg | |
| NM_001363585.1:c.561T>G | NP_001350514.1:p.Ser187Arg | |
| XR_001741133.1:n.1100T>G | ||
| XR_001741134.1:n.1100T>G | ||
| XR_001741135.1:n.1100T>G | ||
| XR_001741136.1:n.1100T>G | ||
| XR_001741137.1:n.1100T>G | ||
| XR_001741138.1:n.1100T>G | ||
| XR_001741139.1:n.1095T>G |