Linked Data
ClinVar Variation Id:
65
dbSNP Id:
rs121918057
ExAC:
1:45480475 G / T
gnomAD v2:
1-45480475-G-T
gnomAD v3:
1-45014803-G-T
gnomAD v4:
1-45014803-G-T
PubMed:
PMID:2920211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45014803G>T , CM000663.2:g.45014803G>T | GRCh38 |
| NC_000001.10:g.45480475G>T , CM000663.1:g.45480475G>T | GRCh37 |
| NC_000001.9:g.45253062G>T | NCBI36 |
| NG_007122.2:g.7646G>T | |
| NG_033058.1:g.1553C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246337.9:c.842G>T MANE Select | ENSP00000246337.4:p.Gly281Val | |
| ENST00000491773.6:c.599G>T | ENSP00000498551.1:p.Gly200Val | |
| ENST00000636293.1:c.704G>T | ENSP00000490710.1:p.Gly235Val | |
| ENST00000636836.1:c.842G>T | ENSP00000490594.1:p.Gly281Val | |
| ENST00000651476.1:c.737G>T | ENSP00000498668.1:p.Gly246Val | |
| ENST00000652165.1:c.599G>T | ENSP00000498295.1:p.Gly200Val | |
| ENST00000652287.1:c.779G>T | ENSP00000498413.1:p.Gly260Val | |
| ENST00000652514.1:c.803G>T | ENSP00000498635.1:n.803G>T | |
| ENST00000246337.8:c.842G>T | ENSP00000246337.4:p.Gly281Val | |
| ENST00000428106.1:c.660G>T | ||
| ENST00000465678.1:n.257G>T | ||
| ENST00000466193.1:n.265G>T | ||
| ENST00000469548.5:n.1038G>T | ||
| ENST00000472254.1:n.595G>T | ||
| ENST00000478467.5:n.845G>T | ||
| ENST00000486699.5:n.962G>T | ||
| ENST00000494399.5:n.1509G>T | ||
| NM_000374.4:c.842G>T | NP_000365.3:p.Gly281Val | |
| NR_036510.1:n.1025G>T | ||
| XM_005271169.1:c.626G>T | XP_005271226.1:p.Gly209Val | |
| XM_005271170.1:c.626G>T | XP_005271227.1:p.Gly209Val | |
| XM_011542080.1:c.779G>T | XP_011540382.1:p.Gly260Val | |
| XM_011542081.1:c.674G>T | XP_011540383.1:p.Gly225Val | |
| NM_000374.5:c.842G>T MANE Select | NP_000365.3:p.Gly281Val | |
| NR_158184.1:n.923G>T | ||
| NR_158185.1:n.873G>T | ||
| NR_036510.2:n.904G>T |