Linked Data
ClinVar Variation Id:
2196166
dbSNP Id:
rs778875097
ExAC:
11:6638270 C / T
gnomAD v2:
11-6638270-C-T
gnomAD v3:
11-6617039-C-T
gnomAD v4:
11-6617039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617039C>T , CM000673.2:g.6617039C>T | GRCh38 |
| NC_000011.9:g.6638270C>T , CM000673.1:g.6638270C>T | GRCh37 |
| NC_000011.8:g.6594846C>T | NCBI36 |
| NG_008653.1:g.7423G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.509G>A | ENSP00000507321.1:p.Arg170Gln | |
| ENST00000299427.12:c.623G>A MANE Select | ENSP00000299427.6:p.Arg208Gln | |
| ENST00000436873.7:c.312+262G>A | ||
| ENST00000524788.2:n.1782G>A | ||
| ENST00000524903.2:n.1898G>A | ||
| ENST00000528807.2:n.279G>A | ||
| ENST00000530040.2:n.479+320G>A | ||
| ENST00000533371.6:c.-107G>A | ENSP00000437066.1:n.-107G>A | |
| ENST00000534644.6:n.571G>A | ||
| ENST00000642892.1:c.-107G>A | ENSP00000494165.1:n.-107G>A | |
| ENST00000643439.1:c.*363G>A | ENSP00000495849.1:n.*363G>A | |
| ENST00000643479.1:n.652G>A | ||
| ENST00000643516.1:c.395+262G>A | ||
| ENST00000644151.1:n.2062G>A | ||
| ENST00000644218.1:c.623G>A | ENSP00000493574.1:p.Arg208Gln | |
| ENST00000644683.1:c.*76G>A | ENSP00000494085.1:n.*76G>A | |
| ENST00000644810.1:c.344G>A | ENSP00000495895.1:p.Arg115Gln | |
| ENST00000644831.1:n.799G>A | ||
| ENST00000644933.1:c.-107G>A | ENSP00000496133.1:n.-107G>A | |
| ENST00000645020.1:n.1798G>A | ||
| ENST00000645285.1:c.-107G>A | ENSP00000495058.1:n.-107G>A | |
| ENST00000645331.1:n.989G>A | ||
| ENST00000645620.1:c.-107G>A | ENSP00000493657.1:n.-107G>A | |
| ENST00000646777.1:n.799G>A | ||
| ENST00000647016.1:n.1103G>A | ||
| ENST00000647152.1:c.-107G>A | ENSP00000495893.1:n.-107G>A | |
| ENST00000647209.1:c.*492G>A | ENSP00000495558.1:n.*492G>A | |
| ENST00000647346.1:n.1643G>A | ||
| ENST00000299427.10:c.623G>A | ENSP00000299427.6:p.Arg208Gln | |
| ENST00000428886.6:n.792G>A | ||
| ENST00000436873.6:c.450+320G>A | ENSP00000398136.2:n.450+320G>A | |
| ENST00000524788.1:n.323G>A | ||
| ENST00000528571.5:c.*363G>A | ENSP00000434647.1:n.*363G>A | |
| ENST00000528807.1:n.173G>A | ||
| ENST00000533371.5:c.-107G>A | ENSP00000437066.1:n.-107G>A | |
| ENST00000534644.5:n.608G>A | ||
| ENST00000611494.4:c.623G>A | ENSP00000484546.1:p.Arg208Gln | |
| NM_000391.3:c.623G>A | NP_000382.3:p.Arg208Gln | |
| NM_000391.4:c.623G>A MANE Select | NP_000382.3:p.Arg208Gln |