Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119296930G>A , CM000673.2:g.119296930G>A | GRCh38 |
| NC_000011.9:g.119167640G>A , CM000673.1:g.119167640G>A | GRCh37 |
| NC_000011.8:g.118672850G>A | NCBI36 |
| NG_016808.1:g.95651G>A , LRG_608:g.95651G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005188.4:c.2049G>A MANE Select | NP_005179.2:p.Val683= |
| ENST00000264033.6:c.2049G>A MANE Select | ENSP00000264033.3:p.Val683= |
| NM_005188.3:c.2049G>A , LRG_608t1:c.2049G>A | NP_005179.2:p.Val683= |
| ENST00000264033.5:c.2049G>A | ENSP00000264033.3:p.Val683= |
| ENST00000634586.1:c.2049G>A | ENSP00000489218.1:p.Val683= |
| ENST00000634840.1:c.1917G>A | ENSP00000489324.1:p.Val639= |
| ENST00000637974.1:c.2043G>A | ENSP00000490763.1:p.Val681= |
| ENST00000700472.1:c.*1501G>A | ENSP00000515005.1:n.*1501G>A |