Linked Data
ClinVar Variation Id:
217003
dbSNP Id:
rs142053576
ExAC:
2:32370014 A / G
gnomAD v2:
2-32370014-A-G
gnomAD v3:
2-32144945-A-G
gnomAD v4:
2-32144945-A-G
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32144945A>G , CM000664.2:g.32144945A>G | GRCh38 |
| NC_000002.11:g.32370014A>G , CM000664.1:g.32370014A>G | GRCh37 |
| NC_000002.10:g.32223518A>G | NCBI36 |
| NG_008730.1:g.86335A>G , LRG_714:g.86335A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704289.1:c.*1285A>G | ENSP00000515816.1:n.*1285A>G | |
| ENST00000315285.9:c.1625A>G MANE Select | ENSP00000320885.3:p.Asp542Gly | |
| ENST00000621856.2:c.1622A>G | ENSP00000482496.2:p.Asp541Gly | |
| ENST00000642281.1:c.1362A>G | ||
| ENST00000642455.1:c.1526A>G | ENSP00000493827.1:p.Asp509Gly | |
| ENST00000642751.1:c.1390+1530A>G | ||
| ENST00000642999.1:c.1367A>G | ENSP00000496589.1:p.Asp456Gly | |
| ENST00000643334.1:c.1205A>G | ||
| ENST00000644408.1:c.1501A>G | ||
| ENST00000644954.1:c.1271A>G | ENSP00000494312.1:p.Asp424Gly | |
| ENST00000645159.1:n.2362A>G | ||
| ENST00000645671.1:c.1066+1530A>G | ||
| ENST00000645730.1:c.804A>G | ||
| ENST00000646082.1:c.1271A>G | ||
| ENST00000646571.1:c.1529A>G | ENSP00000495015.1:p.Asp510Gly | |
| ENST00000647007.1:n.1317A>G | ||
| ENST00000647133.1:c.1125A>G | ||
| ENST00000315285.7:c.1625A>G | ENSP00000320885.3:p.Asp542Gly | |
| ENST00000345662.5:c.1529A>G | ENSP00000340817.1:p.Asp510Gly | |
| ENST00000615843.4:c.1625A>G | ENSP00000480893.1:p.Asp542Gly | |
| ENST00000621856.1:c.1367A>G | ENSP00000482496.1:p.Asp456Gly | |
| NM_014946.3:c.1625A>G , LRG_714t1:c.1625A>G | NP_055761.2:p.Asp542Gly | |
| NM_199436.1:c.1529A>G | NP_955468.1:p.Asp510Gly | |
| XM_005264516.3:c.1622A>G | XP_005264573.1:p.Asp541Gly | |
| XM_011533067.1:c.1616+1530A>G | XP_011531369.1:n.1616+1530A>G | |
| NM_001363823.1:c.1622A>G | NP_001350752.1:p.Asp541Gly | |
| NM_001363875.1:c.1526A>G | NP_001350804.1:p.Asp509Gly | |
| XM_005264516.5:c.1622A>G | XP_005264573.1:p.Asp541Gly | |
| XM_011533067.2:c.1616+1530A>G | XP_011531369.1:n.1616+1530A>G | |
| XM_017004778.2:c.1520+1530A>G | XP_016860267.1:n.1520+1530A>G | |
| NM_001363823.2:c.1622A>G | NP_001350752.1:p.Asp541Gly | |
| NM_001363875.2:c.1526A>G | NP_001350804.1:p.Asp509Gly | |
| NM_001377959.1:c.1520+1530A>G | NP_001364888.1:n.1520+1530A>G | |
| NM_014946.4:c.1625A>G MANE Select | NP_055761.2:p.Asp542Gly | |
| NM_199436.2:c.1529A>G | NP_955468.1:p.Asp510Gly |