Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541982C>A , CM000671.2:g.98541982C>A | GRCh38 |
| NC_000009.11:g.101304264C>A , CM000671.1:g.101304264C>A | GRCh37 |
| NC_000009.10:g.100344085C>A | NCBI36 |
| NG_016426.1:g.172216G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.521G>T MANE Select | ENSP00000259455.2:p.Arg174Leu | |
| ENST00000637410.1:n.299G>T | ||
| ENST00000637717.1:c.137G>T | ENSP00000490789.1:p.Arg46Leu | |
| ENST00000259455.3:c.521G>T | ENSP00000259455.2:p.Arg174Leu | |
| ENST00000477471.1:n.308G>T | ||
| ENST00000634227.1:n.295G>T | ||
| NM_005458.7:c.521G>T | NP_005449.5:p.Arg174Leu | |
| XM_017015331.2:c.227G>T | XP_016870820.1:p.Arg76Leu | |
| NM_005458.8:c.521G>T MANE Select | NP_005449.5:p.Arg174Leu |