Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541989A>G , CM000671.2:g.98541989A>G | GRCh38 |
| NC_000009.11:g.101304271A>G , CM000671.1:g.101304271A>G | GRCh37 |
| NC_000009.10:g.100344092A>G | NCBI36 |
| NG_016426.1:g.172209T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.514T>C MANE Select | ENSP00000259455.2:p.Phe172Leu | |
| ENST00000637410.1:n.292T>C | ||
| ENST00000637717.1:c.130T>C | ENSP00000490789.1:p.Phe44Leu | |
| ENST00000259455.3:c.514T>C | ENSP00000259455.2:p.Phe172Leu | |
| ENST00000477471.1:n.301T>C | ||
| ENST00000634227.1:n.288T>C | ||
| NM_005458.7:c.514T>C | NP_005449.5:p.Phe172Leu | |
| XM_017015331.2:c.220T>C | XP_016870820.1:p.Phe74Leu | |
| NM_005458.8:c.514T>C MANE Select | NP_005449.5:p.Phe172Leu |