Linked Data
ClinVar Variation Id:
775750
ClinVar RCV Id:
RCV000955957
dbSNP Id:
rs112446582
ExAC:
2:111881361 C / T
gnomAD v2:
2-111881361-C-T
gnomAD v3:
2-111123784-C-T
gnomAD v4:
2-111123784-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111123784C>T , CM000664.2:g.111123784C>T | GRCh38 |
| NC_000002.11:g.111881361C>T , CM000664.1:g.111881361C>T | GRCh37 |
| NC_000002.10:g.111597832C>T | NCBI36 |
| NG_029006.1:g.7871C>T , LRG_620:g.7871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393252.4:c.321C>T | ENSP00000376941.4:p.Asp107= | |
| ENST00000405953.6:c.39C>T | ENSP00000384641.1:p.Asp13= | |
| ENST00000433098.6:c.282C>T | ENSP00000401662.2:p.Asp94= | |
| ENST00000438054.2:c.39C>T | ENSP00000389225.2:p.Asp13= | |
| ENST00000393256.8:c.39C>T MANE Select | ENSP00000376943.2:p.Asp13= | |
| ENST00000308659.12:c.39C>T | ENSP00000309226.8:p.Asp13= | |
| ENST00000337565.9:c.39C>T | ENSP00000338374.5:p.Asp13= | |
| ENST00000357757.6:c.39C>T | ENSP00000350398.3:p.Asp13= | |
| ENST00000361493.10:c.39C>T | ENSP00000354879.6:p.Asp13= | |
| ENST00000393252.3:c.39C>T | ENSP00000376941.3:p.Asp13= | |
| ENST00000393256.7:c.39C>T | ENSP00000376943.2:p.Asp13= | |
| ENST00000405953.5:c.39C>T | ENSP00000384641.1:p.Asp13= | |
| ENST00000415458.5:c.39C>T | ENSP00000393781.1:p.Asp13= | |
| ENST00000431217.1:c.39C>T | ENSP00000394640.1:p.Asp13= | |
| ENST00000432179.1:c.39C>T | ENSP00000411870.1:p.Asp13= | |
| ENST00000433098.5:c.39C>T | ENSP00000401662.1:p.Asp13= | |
| ENST00000436733.5:c.39C>T | ENSP00000403727.1:p.Asp13= | |
| ENST00000437029.5:c.39C>T | ENSP00000412892.1:p.Asp13= | |
| ENST00000438054.1:c.33C>T | ENSP00000389225.1:p.Asp11= | |
| ENST00000439718.1:c.39C>T | ENSP00000411137.1:p.Asp13= | |
| ENST00000452231.5:c.39C>T | ENSP00000391292.1:p.Asp13= | |
| ENST00000610735.4:c.39C>T | ENSP00000481030.1:p.Asp13= | |
| ENST00000615946.4:c.39C>T | ENSP00000481423.1:p.Asp13= | |
| ENST00000619294.4:c.39C>T | ENSP00000479714.1:p.Asp13= | |
| ENST00000620862.4:c.39C>T | ENSP00000478133.1:p.Asp13= | |
| ENST00000621302.4:c.39C>T | ENSP00000481652.1:p.Asp13= | |
| ENST00000622509.4:c.39C>T | ENSP00000482175.1:p.Asp13= | |
| ENST00000622612.4:c.39C>T | ENSP00000484360.1:p.Asp13= | |
| NM_001204106.1:c.39C>T | NP_001191035.1:p.Asp13= | |
| NM_001204107.1:c.39C>T , LRG_620t1:c.39C>T | NP_001191036.1:p.Asp13= | |
| NM_001204108.1:c.39C>T , LRG_620t2:c.39C>T | NP_001191037.1:p.Asp13= | |
| NM_001204109.1:c.39C>T | NP_001191038.1:p.Asp13= | |
| NM_001204110.1:c.39C>T | NP_001191039.1:p.Asp13= | |
| NM_001204111.1:c.39C>T | NP_001191040.1:p.Asp13= | |
| NM_001204112.1:c.39C>T | NP_001191041.1:p.Asp13= | |
| NM_001204113.1:c.39C>T , LRG_620t3:c.39C>T | NP_001191042.1:p.Asp13= | |
| NM_006538.4:c.39C>T | NP_006529.1:p.Asp13= | |
| NM_138621.4:c.39C>T | NP_619527.1:p.Asp13= | |
| NM_138622.3:c.39C>T | NP_619528.1:p.Asp13= | |
| NM_138623.3:c.39C>T | NP_619529.1:p.Asp13= | |
| NM_138624.3:c.39C>T | NP_619530.1:p.Asp13= | |
| NM_138625.3:c.39C>T , LRG_620t4:c.39C>T | NP_619531.1:p.Asp13= | |
| NM_138626.3:c.39C>T | NP_619532.1:p.Asp13= | |
| NM_138627.3:c.39C>T | NP_619533.1:p.Asp13= | |
| NM_207002.3:c.39C>T , LRG_620t5:c.39C>T | NP_996885.1:p.Asp13= | |
| NM_207003.2:c.39C>T | NP_996886.1:p.Asp13= | |
| XM_005263550.2:c.321C>T | XP_005263607.1:p.Asp107= | |
| XM_005263551.1:c.321C>T | XP_005263608.1:p.Asp107= | |
| XM_005263552.2:c.321C>T | XP_005263609.1:p.Asp107= | |
| XM_005263553.1:c.321C>T | XP_005263610.1:p.Asp107= | |
| XM_005263554.1:c.321C>T | XP_005263611.1:p.Asp107= | |
| XM_005263555.2:c.321C>T | XP_005263612.1:p.Asp107= | |
| XM_005263556.2:c.39C>T | XP_005263613.1:p.Asp13= | |
| XM_005263557.3:c.39C>T | XP_005263614.1:p.Asp13= | |
| XM_005263559.1:c.321C>T | XP_005263616.1:p.Asp107= | |
| XM_005263561.2:c.39C>T | XP_005263618.1:p.Asp13= | |
| XM_011510461.1:c.321C>T | XP_011508763.1:p.Asp107= | |
| XM_011510462.1:c.321C>T | XP_011508764.1:p.Asp107= | |
| XM_011510463.1:c.90C>T | XP_011508765.1:p.Asp30= | |
| XM_011510464.1:c.321C>T | XP_011508766.1:p.Asp107= | |
| XM_011510465.1:c.321C>T | XP_011508767.1:p.Asp107= | |
| XR_244801.1:n.380C>T | ||
| XR_244802.2:n.380C>T | ||
| XR_922828.1:n.380C>T | ||
| XR_922829.1:n.380C>T | ||
| XR_922830.1:n.380C>T | ||
| XM_005263550.4:c.321C>T | XP_005263607.1:p.Asp107= | |
| XM_005263551.3:c.321C>T | XP_005263608.1:p.Asp107= | |
| XM_005263552.4:c.321C>T | XP_005263609.1:p.Asp107= | |
| XM_005263553.3:c.321C>T | XP_005263610.1:p.Asp107= | |
| XM_005263554.3:c.321C>T | XP_005263611.1:p.Asp107= | |
| XM_005263555.4:c.321C>T | XP_005263612.1:p.Asp107= | |
| XM_005263556.3:c.39C>T | XP_005263613.1:p.Asp13= | |
| XM_005263557.4:c.39C>T | XP_005263614.1:p.Asp13= | |
| XM_005263559.3:c.321C>T | XP_005263616.1:p.Asp107= | |
| XM_005263561.3:c.39C>T | XP_005263618.1:p.Asp13= | |
| XM_011510461.3:c.321C>T | XP_011508763.1:p.Asp107= | |
| XM_011510464.3:c.321C>T | XP_011508766.1:p.Asp107= | |
| XM_017003101.2:c.321C>T | XP_016858590.1:p.Asp107= | |
| XM_017003102.1:c.39C>T | XP_016858591.1:p.Asp13= | |
| XR_001738579.2:n.381C>T | ||
| XR_001738580.2:n.381C>T | ||
| XR_002958776.1:n.398C>T | ||
| XR_244801.3:n.381C>T | ||
| XR_922828.3:n.381C>T | ||
| XR_922829.3:n.381C>T | ||
| NM_138621.5:c.39C>T MANE Select | NP_619527.1:p.Asp13= | |
| NM_001204106.2:c.39C>T | NP_001191035.1:p.Asp13= | |
| NM_001204110.2:c.39C>T | NP_001191039.1:p.Asp13= | |
| NM_001204111.2:c.39C>T | NP_001191040.1:p.Asp13= | |
| NM_001204112.2:c.39C>T | NP_001191041.1:p.Asp13= | |
| NM_006538.5:c.39C>T | NP_006529.1:p.Asp13= | |
| NM_138625.4:c.39C>T | NP_619531.1:p.Asp13= | |
| NM_138627.4:c.39C>T | NP_619533.1:p.Asp13= | |
| NM_207003.3:c.39C>T | NP_996886.1:p.Asp13= | |
| NM_001204109.2:c.39C>T | NP_001191038.1:p.Asp13= | |
| NM_138622.4:c.39C>T | NP_619528.1:p.Asp13= | |
| NM_138623.4:c.39C>T | NP_619529.1:p.Asp13= | |
| NM_138624.4:c.39C>T | NP_619530.1:p.Asp13= | |
| NM_138626.4:c.39C>T | NP_619532.1:p.Asp13= |