Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10647068C>T , CM000682.2:g.10647068C>T | GRCh38 |
| NC_000020.10:g.10627716C>T , CM000682.1:g.10627716C>T | GRCh37 |
| NC_000020.9:g.10575716C>T | NCBI36 |
| NG_007496.1:g.31979G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1756G>A MANE Select | NP_000205.1:p.Asp586Asn |
| ENST00000254958.10:c.1756G>A MANE Select | ENSP00000254958.4:p.Asp586Asn |
| NM_000214.2:c.1756G>A | NP_000205.1:p.Asp586Asn |
| ENST00000254958.9:c.1756G>A | ENSP00000254958.4:p.Asp586Asn |
| ENST00000423891.6:n.1622G>A | |
| ENST00000612857.1:n.245G>A | |
| ENST00000613518.1:c.105G>A | |
| ENST00000617965.2:n.2345G>A | |
| ENST00000622545.1:c.487G>A |