Linked Data
ClinVar Variation Id:
402176
ClinVar RCV Id:
RCV000454207
dbSNP Id:
rs1060499755
gnomAD v4:
5-126577158-T-C
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126577158T>C , CM000667.2:g.126577158T>C | GRCh38 |
| NC_000005.9:g.125912850T>C , CM000667.1:g.125912850T>C | GRCh37 |
| NC_000005.8:g.125940749T>C | NCBI36 |
| NG_008600.2:g.23233A>G | |
| NG_008600.3:g.23233A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409134.8:c.571A>G MANE Select | ENSP00000387123.3:p.Ile191Val | |
| ENST00000412186.2:c.447A>G | ENSP00000414536.2:n.447A>G | |
| ENST00000413020.6:c.571A>G | ENSP00000487936.1:p.Ile191Val | |
| ENST00000458249.6:c.*480A>G | ENSP00000403929.1:n.*480A>G | |
| ENST00000503281.6:c.160A>G | ||
| ENST00000509270.2:c.505A>G | ENSP00000449318.2:p.Ile169Val | |
| ENST00000509459.6:c.119A>G | ||
| ENST00000511266.6:n.1293A>G | ||
| ENST00000635851.1:c.569A>G | ||
| ENST00000636062.1:n.466A>G | ||
| ENST00000636225.1:c.*380A>G | ENSP00000490797.1:n.*380A>G | |
| ENST00000636286.1:n.289A>G | ||
| ENST00000636743.1:c.451A>G | ENSP00000489725.1:p.Ile151Val | |
| ENST00000636808.1:c.*380A>G | ENSP00000490833.1:n.*380A>G | |
| ENST00000636872.1:c.731A>G | ENSP00000490919.1:n.731A>G | |
| ENST00000636879.1:c.616A>G | ENSP00000490811.1:p.Ile206Val | |
| ENST00000636886.1:c.370A>G | ENSP00000490371.1:p.Ile124Val | |
| ENST00000637206.1:c.571A>G | ENSP00000489895.1:p.Ile191Val | |
| ENST00000637272.1:c.571A>G | ENSP00000489686.1:p.Ile191Val | |
| ENST00000637292.1:c.224A>G | ||
| ENST00000637782.1:c.571A>G | ENSP00000490024.1:p.Ile191Val | |
| ENST00000637964.1:c.517A>G | ENSP00000490291.1:p.Ile173Val | |
| ENST00000638008.1:c.*513A>G | ENSP00000490400.1:n.*513A>G | |
| ENST00000409134.7:c.571A>G | ENSP00000387123.3:p.Ile191Val | |
| ENST00000413020.5:c.571A>G | ENSP00000487936.1:p.Ile191Val | |
| ENST00000433026.5:n.98A>G | ||
| ENST00000447989.6:c.652A>G | ENSP00000414132.2:p.Ile218Val | |
| ENST00000458249.5:c.731A>G | ENSP00000403929.1:n.731A>G | |
| ENST00000503281.5:c.160A>G | ||
| ENST00000509459.5:c.119A>G | ||
| ENST00000510111.6:c.484A>G | ENSP00000447388.1:p.Ile162Val | |
| ENST00000511266.5:n.402A>G | ||
| ENST00000553117.5:c.571A>G | ENSP00000448593.1:p.Ile191Val | |
| NM_001182.4:c.571A>G | NP_001173.2:p.Ile191Val | |
| NM_001201377.1:c.487A>G | NP_001188306.1:p.Ile163Val | |
| NM_001202404.1:c.652A>G | NP_001189333.1:p.Ile218Val | |
| XM_011543417.1:c.166A>G | XP_011541719.1:p.Ile56Val | |
| XM_011543417.2:c.166A>G | XP_011541719.1:p.Ile56Val | |
| NM_001182.5:c.571A>G MANE Select | NP_001173.2:p.Ile191Val | |
| NM_001201377.2:c.487A>G | NP_001188306.1:p.Ile163Val | |
| NM_001202404.2:c.571A>G | NP_001189333.2:p.Ile191Val |