Linked Data
dbSNP Id:
rs747918185
ExAC:
11:6638976 A / C
gnomAD v2:
11-6638976-A-C
gnomAD v4:
11-6617745-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617745A>C , CM000673.2:g.6617745A>C | GRCh38 |
| NC_000011.9:g.6638976A>C , CM000673.1:g.6638976A>C | GRCh37 |
| NC_000011.8:g.6595552A>C | NCBI36 |
| NG_008653.1:g.6717T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.147T>G | ENSP00000507321.1:p.Asp49Glu | |
| ENST00000299427.12:c.261T>G MANE Select | ENSP00000299427.6:p.Asp87Glu | |
| ENST00000428886.7:n.349T>G | ||
| ENST00000436873.7:c.65T>G | ||
| ENST00000524788.2:n.1273T>G | ||
| ENST00000524903.2:n.1389T>G | ||
| ENST00000528571.6:c.*1T>G | ENSP00000434647.1:n.*1T>G | |
| ENST00000530040.2:n.290T>G | ||
| ENST00000533371.6:c.-469T>G | ENSP00000437066.1:n.-469T>G | |
| ENST00000534644.6:n.262T>G | ||
| ENST00000642892.1:c.-416T>G | ENSP00000494165.1:n.-416T>G | |
| ENST00000643439.1:c.*1T>G | ENSP00000495849.1:n.*1T>G | |
| ENST00000643479.1:n.290T>G | ||
| ENST00000643516.1:c.148T>G | ||
| ENST00000644151.1:n.1553T>G | ||
| ENST00000644218.1:c.261T>G | ENSP00000493574.1:p.Asp87Glu | |
| ENST00000644683.1:c.261T>G | ENSP00000494085.1:p.Asp87Glu | |
| ENST00000644810.1:c.230-592T>G | ENSP00000495895.1:n.230-592T>G | |
| ENST00000644831.1:n.290T>G | ||
| ENST00000644933.1:c.-469T>G | ENSP00000496133.1:n.-469T>G | |
| ENST00000645020.1:n.1289T>G | ||
| ENST00000645285.1:c.-469T>G | ENSP00000495058.1:n.-469T>G | |
| ENST00000645331.1:n.283T>G | ||
| ENST00000645620.1:c.-411T>G | ENSP00000493657.1:n.-411T>G | |
| ENST00000646777.1:n.290T>G | ||
| ENST00000647016.1:n.594T>G | ||
| ENST00000647152.1:c.-469T>G | ENSP00000495893.1:n.-469T>G | |
| ENST00000647209.1:c.*130T>G | ENSP00000495558.1:n.*130T>G | |
| ENST00000647346.1:n.1281T>G | ||
| ENST00000299427.10:c.261T>G | ENSP00000299427.6:p.Asp87Glu | |
| ENST00000428886.6:n.283T>G | ||
| ENST00000436873.6:c.261T>G | ENSP00000398136.2:p.Asp87Glu | |
| ENST00000528571.5:c.*1T>G | ENSP00000434647.1:n.*1T>G | |
| ENST00000530040.1:n.373T>G | ||
| ENST00000533371.5:c.-469T>G | ENSP00000437066.1:n.-469T>G | |
| ENST00000534644.5:n.246T>G | ||
| ENST00000611494.4:c.261T>G | ENSP00000484546.1:p.Asp87Glu | |
| NM_000391.3:c.261T>G | NP_000382.3:p.Asp87Glu | |
| NM_000391.4:c.261T>G MANE Select | NP_000382.3:p.Asp87Glu |