Linked Data
ClinVar Variation Id:
557013
dbSNP Id:
rs104894598
ExAC:
17:40695718 G / T
gnomAD v2:
17-40695718-G-T
gnomAD v4:
17-42543700-G-T
COSMIC:
COSM6147046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543700G>T , CM000679.2:g.42543700G>T | GRCh38 |
| NC_000017.10:g.40695718G>T , CM000679.1:g.40695718G>T | GRCh37 |
| NC_000017.9:g.37949244G>T | NCBI36 |
| NG_011552.1:g.12768G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225927.7:c.1694G>T MANE Select | ENSP00000225927.1:p.Arg565Leu | |
| ENST00000225927.6:c.1694G>T | ENSP00000225927.1:p.Arg565Leu | |
| ENST00000591587.1:c.1032G>T | ENSP00000467836.1:n.1032G>T | |
| NM_000263.3:c.1694G>T | NP_000254.2:p.Arg565Leu | |
| XM_006721920.2:c.863G>T | XP_006721983.1:p.Arg288Leu | |
| XM_011524840.1:c.695G>T | XP_011523142.1:p.Arg232Leu | |
| XM_017024687.1:c.863G>T | XP_016880176.1:p.Arg288Leu | |
| XM_024450771.1:c.1751G>T | XP_024306539.1:p.Arg584Leu | |
| XM_024450772.1:c.695G>T | XP_024306540.1:p.Arg232Leu | |
| NM_000263.4:c.1694G>T MANE Select | NP_000254.2:p.Arg565Leu |