Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658469T>G , CM000682.2:g.10658469T>G | GRCh38 |
| NC_000020.10:g.10639117T>G , CM000682.1:g.10639117T>G | GRCh37 |
| NC_000020.9:g.10587117T>G | NCBI36 |
| NG_007496.1:g.20578A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.693A>C MANE Select | ENSP00000254958.4:p.Arg231Ser | |
| ENST00000254958.9:c.693A>C | ENSP00000254958.4:p.Arg231Ser | |
| ENST00000423891.6:n.559A>C | ||
| NM_000214.2:c.693A>C | NP_000205.1:p.Arg231Ser | |
| NM_000214.3:c.693A>C MANE Select | NP_000205.1:p.Arg231Ser |