Linked Data
ClinVar Variation Id:
1263
dbSNP Id:
rs74555752
gnomAD v4:
13-50945470-T-G
PubMed:
PMID:16845400
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50945470T>G , CM000675.2:g.50945470T>G | GRCh38 |
| NC_000013.10:g.51519606T>G , CM000675.1:g.51519606T>G | GRCh37 |
| NC_000013.9:g.50417607T>G | NCBI36 |
| NG_009055.1:g.40715T>G , LRG_279:g.40715T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.554T>G MANE Select | ENSP00000337623.2:p.Val185Gly | |
| ENST00000422660.6:c.554T>G | ENSP00000389877.1:p.Val185Gly | |
| ENST00000459681.3:n.237T>G | ||
| ENST00000495244.7:n.565T>G | ||
| ENST00000611510.5:c.464T>G | ENSP00000481236.3:p.Val155Gly | |
| ENST00000616907.2:c.554T>G | ENSP00000482701.2:p.Val185Gly | |
| ENST00000642207.1:c.293T>G | ||
| ENST00000642454.1:c.464T>G | ENSP00000494221.1:p.Val155Gly | |
| ENST00000642721.1:c.554T>G | ENSP00000495650.1:p.Val185Gly | |
| ENST00000642995.1:c.437T>G | ENSP00000493499.1:p.Val146Gly | |
| ENST00000643159.1:c.464T>G | ENSP00000495587.1:p.Val155Gly | |
| ENST00000643215.1:c.424T>G | ||
| ENST00000643405.1:c.202T>G | ||
| ENST00000643529.1:c.67T>G | ||
| ENST00000643682.1:c.554T>G | ENSP00000493655.1:p.Val185Gly | |
| ENST00000643774.1:c.518T>G | ENSP00000495482.1:p.Val173Gly | |
| ENST00000644034.1:c.65-2517T>G | ENSP00000495456.1:n.65-2517T>G | |
| ENST00000644183.1:c.444T>G | ENSP00000495657.1:n.444T>G | |
| ENST00000644297.1:c.*412T>G | ENSP00000495519.1:n.*412T>G | |
| ENST00000644420.1:n.580T>G | ||
| ENST00000644425.1:c.505T>G | ||
| ENST00000644518.1:c.*421T>G | ENSP00000495793.1:n.*421T>G | |
| ENST00000645188.1:c.545T>G | ENSP00000496224.1:p.Val182Gly | |
| ENST00000645333.1:n.486T>G | ||
| ENST00000645370.1:c.389T>G | ENSP00000494019.1:p.Val130Gly | |
| ENST00000645618.1:c.464T>G | ENSP00000495429.1:p.Val155Gly | |
| ENST00000645712.1:n.578T>G | ||
| ENST00000645955.1:c.554T>G | ENSP00000495755.1:p.Val185Gly | |
| ENST00000645990.1:c.554T>G | ENSP00000496571.1:p.Val185Gly | |
| ENST00000646092.1:c.518T>G | ENSP00000496293.1:p.Val173Gly | |
| ENST00000646279.1:n.851T>G | ||
| ENST00000646339.1:c.216T>G | ENSP00000495773.1:n.216T>G | |
| ENST00000646709.1:c.464T>G | ENSP00000495278.1:p.Val155Gly | |
| ENST00000646731.1:c.545T>G | ENSP00000493828.1:p.Val182Gly | |
| ENST00000646960.1:c.554T>G | ENSP00000496481.1:p.Val185Gly | |
| ENST00000646964.1:n.1193T>G | ||
| ENST00000647387.1:c.464T>G | ENSP00000495487.1:p.Val155Gly | |
| ENST00000336617.7:c.554T>G | ENSP00000337623.2:p.Val185Gly | |
| ENST00000422660.5:c.554T>G | ENSP00000389877.1:p.Val185Gly | |
| ENST00000495244.6:n.565T>G | ||
| ENST00000611510.4:c.554T>G | ENSP00000481236.2:p.Val185Gly | |
| ENST00000613449.4:n.2616T>G | ||
| ENST00000621641.1:n.142T>G | ||
| NM_001142279.2:c.554T>G , LRG_279t1:c.554T>G | NP_001135751.1:p.Val185Gly | |
| NM_024570.3:c.554T>G , LRG_279t2:c.554T>G | NP_078846.2:p.Val185Gly | |
| XM_005266524.2:c.554T>G | XP_005266581.1:p.Val185Gly | |
| XM_005266525.2:c.554T>G | XP_005266582.1:p.Val185Gly | |
| XM_006719867.2:c.536T>G | XP_006719930.1:p.Val179Gly | |
| XM_011535229.1:c.554T>G | XP_011533531.1:p.Val185Gly | |
| XM_011535230.1:c.554T>G | XP_011533532.1:p.Val185Gly | |
| XM_011535231.1:c.554T>G | XP_011533533.1:p.Val185Gly | |
| XM_011535232.1:c.392T>G | XP_011533534.1:p.Val131Gly | |
| XM_011535233.1:c.146T>G | XP_011533535.1:p.Val49Gly | |
| XM_011535234.1:c.*39T>G | XP_011533536.1:n.*39T>G | |
| XM_006719867.4:c.536T>G | XP_006719930.1:p.Val179Gly | |
| XM_011535230.2:c.554T>G | XP_011533532.1:p.Val185Gly | |
| XM_011535231.2:c.554T>G | XP_011533533.1:p.Val185Gly | |
| XM_011535233.2:c.146T>G | XP_011533535.1:p.Val49Gly | |
| XM_017020747.1:c.554T>G | XP_016876236.1:p.Val185Gly | |
| NM_024570.4:c.554T>G MANE Select | NP_078846.2:p.Val185Gly |