Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119285419A>G , CM000673.2:g.119285419A>G | GRCh38 |
| NC_000011.9:g.119156129A>G , CM000673.1:g.119156129A>G | GRCh37 |
| NC_000011.8:g.118661339A>G | NCBI36 |
| NG_016808.1:g.84140A>G , LRG_608:g.84140A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005188.4:c.1794A>G MANE Select | NP_005179.2:p.Val598= |
| ENST00000264033.6:c.1794A>G MANE Select | ENSP00000264033.3:p.Val598= |
| NM_005188.3:c.1794A>G , LRG_608t1:c.1794A>G | NP_005179.2:p.Val598= |
| ENST00000264033.5:c.1794A>G | ENSP00000264033.3:p.Val598= |
| ENST00000634586.1:c.1794A>G | ENSP00000489218.1:p.Val598= |
| ENST00000634840.1:c.1662A>G | ENSP00000489324.1:p.Val554= |
| ENST00000637974.1:c.1788A>G | ENSP00000490763.1:p.Val596= |
| ENST00000700472.1:c.*1246A>G | ENSP00000515005.1:n.*1246A>G |