Linked Data
ClinVar Variation Id:
1962876
ClinVar RCV Id:
RCV002735224
dbSNP Id:
rs779333902
ExAC:
11:6636402 C / G
gnomAD v2:
11-6636402-C-G
gnomAD v4:
11-6615171-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615171C>G , CM000673.2:g.6615171C>G | GRCh38 |
| NC_000011.9:g.6636402C>G , CM000673.1:g.6636402C>G | GRCh37 |
| NC_000011.8:g.6592978C>G | NCBI36 |
| NG_008653.1:g.9291G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1311G>C | ENSP00000507321.1:p.Ser437= | |
| ENST00000299427.12:c.1425G>C MANE Select | ENSP00000299427.6:p.Ser475= | |
| ENST00000524611.2:n.285G>C | ||
| ENST00000524924.2:n.545G>C | ||
| ENST00000533371.6:c.696G>C | ENSP00000437066.1:p.Ser232= | |
| ENST00000642892.1:c.696G>C | ENSP00000494165.1:p.Ser232= | |
| ENST00000643342.1:c.498G>C | ||
| ENST00000643439.1:c.*1165G>C | ENSP00000495849.1:n.*1165G>C | |
| ENST00000643479.1:n.1611G>C | ||
| ENST00000643516.1:c.934G>C | ||
| ENST00000644218.1:c.1236G>C | ENSP00000493574.1:p.Ser412= | |
| ENST00000644683.1:c.*878G>C | ENSP00000494085.1:n.*878G>C | |
| ENST00000644810.1:c.1146G>C | ENSP00000495895.1:p.Ser382= | |
| ENST00000644831.1:n.1601G>C | ||
| ENST00000644933.1:c.*291G>C | ENSP00000496133.1:n.*291G>C | |
| ENST00000645285.1:c.*291G>C | ENSP00000495058.1:n.*291G>C | |
| ENST00000645331.1:n.2630G>C | ||
| ENST00000645620.1:c.696G>C | ENSP00000493657.1:p.Ser232= | |
| ENST00000646691.1:n.1312G>C | ||
| ENST00000646777.1:n.1758G>C | ||
| ENST00000647016.1:n.1905G>C | ||
| ENST00000647152.1:c.696G>C | ENSP00000495893.1:p.Ser232= | |
| ENST00000647209.1:c.*1294G>C | ENSP00000495558.1:n.*1294G>C | |
| ENST00000647346.1:n.2445G>C | ||
| ENST00000299427.10:c.1425G>C | ENSP00000299427.6:p.Ser475= | |
| ENST00000524611.1:n.303G>C | ||
| ENST00000533371.5:c.696G>C | ENSP00000437066.1:p.Ser232= | |
| ENST00000611494.4:c.1425G>C | ENSP00000484546.1:p.Ser475= | |
| NM_000391.3:c.1425G>C | NP_000382.3:p.Ser475= | |
| NM_000391.4:c.1425G>C MANE Select | NP_000382.3:p.Ser475= |