Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136055780C>T , CM000667.2:g.136055780C>T | GRCh38 |
| NC_000005.9:g.135391469C>T , CM000667.1:g.135391469C>T | GRCh37 |
| NC_000005.8:g.135419368C>T | NCBI36 |
| NG_012646.1:g.31886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1511C>T MANE Select | ENSP00000416330.2:p.Thr504Ile | |
| ENST00000442011.6:c.1511C>T | ENSP00000416330.2:p.Thr504Ile | |
| ENST00000506699.5:n.2028C>T | ||
| ENST00000507018.5:c.1489C>T | ||
| ENST00000509485.5:c.426C>T | ||
| ENST00000514242.5:n.282C>T | ||
| ENST00000514554.5:c.663C>T | ||
| NM_000358.2:c.1511C>T | NP_000349.1:p.Thr504Ile | |
| NM_000358.3:c.1511C>T MANE Select | NP_000349.1:p.Thr504Ile |