Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40958616T>G , CM000679.2:g.40958616T>G | GRCh38 |
| NC_000017.10:g.39114868T>G , CM000679.1:g.39114868T>G | GRCh37 |
| NC_000017.9:g.36368394T>G | NCBI36 |
| NG_012415.1:g.13277A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355612.7:c.1461A>C MANE Select | ENSP00000347823.2:p.Arg487Ser | |
| ENST00000355612.6:c.1461A>C | ENSP00000347823.2:p.Arg487Ser | |
| ENST00000578029.1:n.661A>C | ||
| ENST00000578078.1:c.*950A>C | ENSP00000464180.1:n.*950A>C | |
| NM_213656.3:c.1461A>C | NP_998821.3:p.Arg487Ser | |
| XR_001752885.1:n.84-16881T>G | ||
| XR_001752886.1:n.84-16881T>G | ||
| NM_213656.4:c.1461A>C MANE Select | NP_998821.3:p.Arg487Ser |