Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541959C>G , CM000671.2:g.98541959C>G | GRCh38 |
| NC_000009.11:g.101304241C>G , CM000671.1:g.101304241C>G | GRCh37 |
| NC_000009.10:g.100344062C>G | NCBI36 |
| NG_016426.1:g.172239G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.544G>C MANE Select | ENSP00000259455.2:p.Val182Leu | |
| ENST00000637410.1:n.322G>C | ||
| ENST00000637717.1:c.160G>C | ENSP00000490789.1:p.Val54Leu | |
| ENST00000259455.3:c.544G>C | ENSP00000259455.2:p.Val182Leu | |
| ENST00000477471.1:n.331G>C | ||
| ENST00000634227.1:n.318G>C | ||
| NM_005458.7:c.544G>C | NP_005449.5:p.Val182Leu | |
| XM_017015331.2:c.250G>C | XP_016870820.1:p.Val84Leu | |
| NM_005458.8:c.544G>C MANE Select | NP_005449.5:p.Val182Leu |