Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10646022A>G , CM000682.2:g.10646022A>G | GRCh38 |
| NC_000020.10:g.10626670A>G , CM000682.1:g.10626670A>G | GRCh37 |
| NC_000020.9:g.10574670A>G | NCBI36 |
| NG_007496.1:g.33025T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1948T>C MANE Select | NP_000205.1:p.Ser650Pro |
| ENST00000254958.10:c.1948T>C MANE Select | ENSP00000254958.4:p.Ser650Pro |
| NM_000214.2:c.1948T>C | NP_000205.1:p.Ser650Pro |
| ENST00000254958.9:c.1948T>C | ENSP00000254958.4:p.Ser650Pro |
| ENST00000423891.6:n.1814T>C | |
| ENST00000488480.2:n.345T>C | |
| ENST00000612857.1:n.437T>C | |
| ENST00000613518.1:c.297T>C | |
| ENST00000617965.2:n.2537T>C |