Linked Data
ClinVar Variation Id:
65469
dbSNP Id:
rs397515327
gnomAD v2:
11-118971495-G-C
PubMed:
PMID:22304930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119100785G>C , CM000673.2:g.119100785G>C | GRCh38 |
| NC_000011.9:g.118971495G>C , CM000673.1:g.118971495G>C | GRCh37 |
| NC_000011.8:g.118476705G>C | NCBI36 |
| NG_008918.1:g.6291C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.517C>G | ||
| ENST00000530052.2:n.1083C>G | ||
| ENST00000682191.1:n.543C>G | ||
| ENST00000682192.1:n.543C>G | ||
| ENST00000682232.1:c.*46C>G | ENSP00000507302.1:n.*46C>G | |
| ENST00000682326.1:c.341C>G | ENSP00000508129.1:p.Ala114Gly | |
| ENST00000682404.1:n.1083C>G | ||
| ENST00000682517.1:n.1083C>G | ||
| ENST00000682652.1:n.1312C>G | ||
| ENST00000682665.1:n.738C>G | ||
| ENST00000682691.1:n.738C>G | ||
| ENST00000682791.1:c.254C>G | ENSP00000507312.1:p.Ala85Gly | |
| ENST00000682811.1:c.341C>G | ENSP00000508196.1:p.Ala114Gly | |
| ENST00000682883.1:n.644C>G | ||
| ENST00000682946.1:c.341C>G | ENSP00000506856.1:p.Ala114Gly | |
| ENST00000683143.1:c.*46C>G | ENSP00000507168.1:n.*46C>G | |
| ENST00000683373.1:n.543C>G | ||
| ENST00000683558.1:n.543C>G | ||
| ENST00000683567.1:n.568C>G | ||
| ENST00000683955.1:n.738C>G | ||
| ENST00000684142.1:c.*16C>G | ENSP00000508008.1:n.*16C>G | |
| ENST00000684252.1:n.738C>G | ||
| ENST00000684255.1:c.*46C>G | ENSP00000507398.1:n.*46C>G | |
| ENST00000684315.1:n.1074C>G | ||
| ENST00000684345.1:c.*16C>G | ENSP00000507163.1:n.*16C>G | |
| ENST00000684499.1:c.*446C>G | ENSP00000506800.1:n.*446C>G | |
| ENST00000684682.1:c.162-377C>G | ENSP00000507326.1:n.162-377C>G | |
| ENST00000354202.9:c.341C>G MANE Select | ENSP00000346142.4:p.Ala114Gly | |
| ENST00000639704.1:c.283-35C>G | ENSP00000491336.1:n.283-35C>G | |
| ENST00000640102.1:c.204C>G | ENSP00000492027.1:p.Cys68Trp | |
| ENST00000640747.1:c.*16C>G | ENSP00000492730.1:n.*16C>G | |
| ENST00000354202.8:c.341C>G | ENSP00000346142.4:p.Ala114Gly | |
| ENST00000392834.7:c.*46C>G | ENSP00000376579.3:n.*46C>G | |
| ENST00000409993.6:c.341C>G | ENSP00000386597.2:p.Ala114Gly | |
| ENST00000414373.5:c.*87C>G | ENSP00000402019.1:n.*87C>G | |
| ENST00000442480.1:c.191C>G | ENSP00000406591.1:p.Ala64Gly | |
| ENST00000445653.5:n.427C>G | ||
| ENST00000460183.1:n.902C>G | ||
| ENST00000481084.5:n.1125+233C>G | ||
| ENST00000525456.5:n.344C>G | ||
| ENST00000530052.1:n.239C>G | ||
| ENST00000533687.1:n.132C>G | ||
| NM_001382.3:c.341C>G | NP_001373.2:p.Ala114Gly | |
| XM_005271422.2:c.341C>G | XP_005271479.1:p.Ala114Gly | |
| XM_011542648.1:c.20C>G | XP_011540950.1:p.Ala7Gly | |
| XR_947801.1:n.777C>G | ||
| XM_005271422.3:c.341C>G | XP_005271479.1:p.Ala114Gly | |
| XM_011542648.2:c.20C>G | XP_011540950.1:p.Ala7Gly | |
| XM_017017293.2:c.20C>G | XP_016872782.1:p.Ala7Gly | |
| XM_017017294.2:c.341C>G | XP_016872783.1:p.Ala114Gly | |
| XM_017017295.1:c.-20-377C>G | XP_016872784.1:n.-20-377C>G | |
| XR_001747785.2:n.564C>G | ||
| XR_947801.2:n.564C>G | ||
| NM_001382.4:c.341C>G MANE Select | NP_001373.2:p.Ala114Gly |