Linked Data
ClinVar Variation Id:
218096
dbSNP Id:
rs863225088
gnomAD v3:
11-119100321-G-C
gnomAD v4:
11-119100321-G-C
PubMed:
PMID:26805780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119100321G>C , CM000673.2:g.119100321G>C | GRCh38 |
| NC_000011.9:g.118971031G>C , CM000673.1:g.118971031G>C | GRCh37 |
| NC_000011.8:g.118476241G>C | NCBI36 |
| NG_008918.1:g.6755C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.760C>G | ||
| ENST00000530052.2:n.1326C>G | ||
| ENST00000682191.1:n.786C>G | ||
| ENST00000682192.1:n.786C>G | ||
| ENST00000682232.1:c.*289C>G | ENSP00000507302.1:n.*289C>G | |
| ENST00000682326.1:c.584C>G | ENSP00000508129.1:p.Ala195Gly | |
| ENST00000682404.1:n.1326C>G | ||
| ENST00000682517.1:n.1326C>G | ||
| ENST00000682652.1:n.1555C>G | ||
| ENST00000682665.1:n.981C>G | ||
| ENST00000682691.1:n.981C>G | ||
| ENST00000682791.1:c.497C>G | ENSP00000507312.1:p.Ala166Gly | |
| ENST00000682811.1:c.584C>G | ENSP00000508196.1:p.Ala195Gly | |
| ENST00000682883.1:n.887C>G | ||
| ENST00000682946.1:c.584C>G | ENSP00000506856.1:p.Ala195Gly | |
| ENST00000683143.1:c.*289C>G | ENSP00000507168.1:n.*289C>G | |
| ENST00000683373.1:n.786C>G | ||
| ENST00000683558.1:n.786C>G | ||
| ENST00000683567.1:n.811C>G | ||
| ENST00000683955.1:n.981C>G | ||
| ENST00000684142.1:c.*259C>G | ENSP00000508008.1:n.*259C>G | |
| ENST00000684252.1:n.981C>G | ||
| ENST00000684255.1:c.*289C>G | ENSP00000507398.1:n.*289C>G | |
| ENST00000684315.1:n.1317C>G | ||
| ENST00000684345.1:c.*259C>G | ENSP00000507163.1:n.*259C>G | |
| ENST00000684499.1:c.*689C>G | ENSP00000506800.1:n.*689C>G | |
| ENST00000684682.1:c.*12C>G | ENSP00000507326.1:n.*12C>G | |
| ENST00000354202.9:c.584C>G MANE Select | ENSP00000346142.4:p.Ala195Gly | |
| ENST00000636404.1:c.88C>G | ||
| ENST00000638850.1:c.88C>G | ||
| ENST00000639704.1:c.491C>G | ENSP00000491336.1:p.Ala164Gly | |
| ENST00000640102.1:c.*237C>G | ENSP00000492027.1:n.*237C>G | |
| ENST00000640747.1:c.*259C>G | ENSP00000492730.1:n.*259C>G | |
| ENST00000354202.8:c.584C>G | ENSP00000346142.4:p.Ala195Gly | |
| ENST00000392834.7:c.*289C>G | ENSP00000376579.3:n.*289C>G | |
| ENST00000409993.6:c.584C>G | ENSP00000386597.2:p.Ala195Gly | |
| ENST00000414373.5:c.*330C>G | ENSP00000402019.1:n.*330C>G | |
| ENST00000442480.1:c.434C>G | ENSP00000406591.1:p.Ala145Gly | |
| ENST00000461999.1:n.89C>G | ||
| ENST00000481084.5:n.1213C>G | ||
| ENST00000525456.5:n.587C>G | ||
| ENST00000530052.1:n.482C>G | ||
| ENST00000533687.1:n.596C>G | ||
| NM_001382.3:c.584C>G | NP_001373.2:p.Ala195Gly | |
| XM_005271422.2:c.584C>G | XP_005271479.1:p.Ala195Gly | |
| XM_011542648.1:c.263C>G | XP_011540950.1:p.Ala88Gly | |
| XR_947801.1:n.1020C>G | ||
| XM_005271422.3:c.584C>G | XP_005271479.1:p.Ala195Gly | |
| XM_011542648.2:c.263C>G | XP_011540950.1:p.Ala88Gly | |
| XM_017017293.2:c.263C>G | XP_016872782.1:p.Ala88Gly | |
| XM_017017294.2:c.584C>G | XP_016872783.1:p.Ala195Gly | |
| XM_017017295.1:c.68C>G | XP_016872784.1:p.Ala23Gly | |
| XR_001747785.2:n.807C>G | ||
| XR_947801.2:n.807C>G | ||
| NM_001382.4:c.584C>G MANE Select | NP_001373.2:p.Ala195Gly |