Linked Data
ClinVar Variation Id:
967921
ClinVar RCV Id:
RCV001242943
dbSNP Id:
rs747518441
gnomAD v2:
1-17349218-C-A
gnomAD v4:
1-17022723-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022723C>A , CM000663.2:g.17022723C>A | GRCh38 |
| NC_000001.10:g.17349218C>A , CM000663.1:g.17349218C>A | GRCh37 |
| NC_000001.9:g.17221805C>A | NCBI36 |
| NG_012340.1:g.36448G>T , LRG_316:g.36448G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.479G>T | ENSP00000481376.2:p.Arg160Leu | |
| ENST00000491274.6:c.608G>T | ENSP00000480482.2:p.Arg203Leu | |
| ENST00000375499.8:c.650G>T MANE Select | ENSP00000364649.3:p.Arg217Leu | |
| ENST00000375499.7:c.650G>T | ENSP00000364649.3:p.Arg217Leu | |
| ENST00000475049.5:n.75G>T | ||
| ENST00000485092.5:n.314G>T | ||
| ENST00000485515.5:n.584G>T | ||
| NM_003000.2:c.650G>T , LRG_316t1:c.650G>T | NP_002991.2:p.Arg217Leu | |
| NM_003000.3:c.650G>T MANE Select | NP_002991.2:p.Arg217Leu |