Linked Data
ClinVar Variation Id:
46290
dbSNP Id:
rs200789563
ExAC:
5:89925235 G / T
gnomAD v2:
5-89925235-G-T
gnomAD v3:
5-90629418-G-T
gnomAD v4:
5-90629418-G-T
PubMed:
PMID:24123792
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90629418G>T , CM000667.2:g.90629418G>T | GRCh38 |
| NC_000005.9:g.89925235G>T , CM000667.1:g.89925235G>T | GRCh37 |
| NC_000005.8:g.89960991G>T | NCBI36 |
| NG_007083.1:g.75619G>T | |
| NG_007083.2:g.105075G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.1718G>T MANE Select | ENSP00000384582.2:p.Gly573Val | |
| ENST00000504142.2:n.484G>T | ||
| ENST00000640109.1:n.1814G>T | ||
| ENST00000405460.6:c.1718G>T | ENSP00000384582.2:p.Gly573Val | |
| ENST00000504142.1:c.483G>T | ||
| NM_032119.3:c.1718G>T | NP_115495.3:p.Gly573Val | |
| NR_003149.1:n.1814G>T | ||
| XM_011543675.1:c.1718G>T | XP_011541977.1:p.Gly573Val | |
| XM_011543676.1:c.1718G>T | XP_011541978.1:p.Gly573Val | |
| XM_011543678.1:c.1718G>T | XP_011541980.1:p.Gly573Val | |
| XM_011543679.1:c.1718G>T | XP_011541981.1:p.Gly573Val | |
| NM_032119.4:c.1718G>T MANE Select | NP_115495.3:p.Gly573Val | |
| XM_017009963.2:c.1718G>T | XP_016865452.1:p.Gly573Val | |
| XM_017009964.2:c.1718G>T | XP_016865453.1:p.Gly573Val | |
| XM_017009965.1:c.1715G>T | XP_016865454.1:p.Gly572Val | |
| XM_017009966.2:c.1718G>T | XP_016865455.1:p.Gly573Val | |
| XM_017009967.1:c.1622G>T | XP_016865456.1:p.Gly541Val | |
| XM_017009968.2:c.1718G>T | XP_016865457.1:p.Gly573Val | |
| XM_017009969.2:c.1718G>T | XP_016865458.1:p.Gly573Val | |
| XM_017009970.2:c.1718G>T | XP_016865459.1:p.Gly573Val | |
| XM_017009971.2:c.1718G>T | XP_016865460.1:p.Gly573Val | |
| XM_017009974.2:c.1718G>T | XP_016865463.1:p.Gly573Val | |
| NR_003149.2:n.1817G>T |