Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10647049C>T , CM000682.2:g.10647049C>T | GRCh38 |
| NC_000020.10:g.10627697C>T , CM000682.1:g.10627697C>T | GRCh37 |
| NC_000020.9:g.10575697C>T | NCBI36 |
| NG_007496.1:g.31998G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1775G>A MANE Select | NP_000205.1:p.Arg592Gln |
| ENST00000254958.10:c.1775G>A MANE Select | ENSP00000254958.4:p.Arg592Gln |
| NM_000214.2:c.1775G>A | NP_000205.1:p.Arg592Gln |
| ENST00000254958.9:c.1775G>A | ENSP00000254958.4:p.Arg592Gln |
| ENST00000423891.6:n.1641G>A | |
| ENST00000612857.1:n.264G>A | |
| ENST00000613518.1:c.124G>A | |
| ENST00000617965.2:n.2364G>A | |
| ENST00000622545.1:c.506G>A |