Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658646C>T , CM000682.2:g.10658646C>T | GRCh38 |
| NC_000020.10:g.10639294C>T , CM000682.1:g.10639294C>T | GRCh37 |
| NC_000020.9:g.10587294C>T | NCBI36 |
| NG_007496.1:g.20401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.516G>A MANE Select | ENSP00000254958.4:p.Gln172= | |
| ENST00000254958.9:c.516G>A | ENSP00000254958.4:p.Gln172= | |
| ENST00000423891.6:n.382G>A | ||
| NM_000214.2:c.516G>A | NP_000205.1:p.Gln172= | |
| NM_000214.3:c.516G>A MANE Select | NP_000205.1:p.Gln172= |