Linked Data
ClinVar Variation Id:
18002
dbSNP Id:
rs201948406
ExAC:
5:125903988 C / T
gnomAD v2:
5-125903988-C-T
gnomAD v3:
5-126568296-C-T
gnomAD v4:
5-126568296-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126568296C>T , CM000667.2:g.126568296C>T | GRCh38 |
| NC_000005.9:g.125903988C>T , CM000667.1:g.125903988C>T | GRCh37 |
| NC_000005.8:g.125931887C>T | NCBI36 |
| NG_008600.2:g.32095G>A | |
| NG_008600.3:g.32095G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.834G>A MANE Select | ENSP00000387123.3:p.Val278= | |
| ENST00000413020.6:c.834G>A | ENSP00000487936.1:p.Val278= | |
| ENST00000458249.6:c.*743G>A | ENSP00000403929.1:n.*743G>A | |
| ENST00000503281.6:c.423G>A | ||
| ENST00000509459.6:c.382G>A | ||
| ENST00000511266.6:n.1556G>A | ||
| ENST00000635851.1:c.832G>A | ||
| ENST00000636062.1:n.729G>A | ||
| ENST00000636225.1:c.*643G>A | ENSP00000490797.1:n.*643G>A | |
| ENST00000636286.1:n.552G>A | ||
| ENST00000636743.1:c.714G>A | ENSP00000489725.1:p.Val238= | |
| ENST00000636808.1:c.*643G>A | ENSP00000490833.1:n.*643G>A | |
| ENST00000636872.1:c.994G>A | ENSP00000490919.1:n.994G>A | |
| ENST00000636879.1:c.879G>A | ENSP00000490811.1:p.Val293= | |
| ENST00000636886.1:c.633G>A | ENSP00000490371.1:p.Val211= | |
| ENST00000636892.1:n.2842G>A | ||
| ENST00000637206.1:c.834G>A | ENSP00000489895.1:p.Val278= | |
| ENST00000637272.1:c.834G>A | ENSP00000489686.1:p.Val278= | |
| ENST00000637292.1:c.426+2486G>A | ||
| ENST00000637782.1:c.834G>A | ENSP00000490024.1:p.Val278= | |
| ENST00000637964.1:c.780G>A | ENSP00000490291.1:p.Val260= | |
| ENST00000638008.1:c.*715+2486G>A | ENSP00000490400.1:n.*715+2486G>A | |
| ENST00000409134.7:c.834G>A | ENSP00000387123.3:p.Val278= | |
| ENST00000413020.5:c.834G>A | ENSP00000487936.1:p.Val278= | |
| ENST00000433026.5:n.361G>A | ||
| ENST00000447989.6:c.915G>A | ENSP00000414132.2:p.Val305= | |
| ENST00000458249.5:c.994G>A | ENSP00000403929.1:n.994G>A | |
| ENST00000503281.5:c.423G>A | ||
| ENST00000509459.5:c.382G>A | ||
| ENST00000553117.5:c.834G>A | ENSP00000448593.1:p.Val278= | |
| NM_001182.4:c.834G>A | NP_001173.2:p.Val278= | |
| NM_001201377.1:c.750G>A | NP_001188306.1:p.Val250= | |
| NM_001202404.1:c.915G>A | NP_001189333.1:p.Val305= | |
| XM_011543417.1:c.429G>A | XP_011541719.1:p.Val143= | |
| XM_011543417.2:c.429G>A | XP_011541719.1:p.Val143= | |
| NM_001182.5:c.834G>A MANE Select | NP_001173.2:p.Val278= | |
| NM_001201377.2:c.750G>A | NP_001188306.1:p.Val250= | |
| NM_001202404.2:c.834G>A | NP_001189333.2:p.Val278= |