Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644965A>G , CM000682.2:g.10644965A>G | GRCh38 |
| NC_000020.10:g.10625613A>G , CM000682.1:g.10625613A>G | GRCh37 |
| NC_000020.9:g.10573613A>G | NCBI36 |
| NG_007496.1:g.34082T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2242T>C MANE Select | NP_000205.1:p.Cys748Arg |
| ENST00000254958.10:c.2242T>C MANE Select | ENSP00000254958.4:p.Cys748Arg |
| NM_000214.2:c.2242T>C | NP_000205.1:p.Cys748Arg |
| ENST00000254958.9:c.2242T>C | ENSP00000254958.4:p.Cys748Arg |
| ENST00000423891.6:n.2108T>C | |
| ENST00000488480.2:n.639T>C | |
| ENST00000617965.2:n.2831T>C |