Linked Data
ClinVar Variation Id:
1761946
ClinVar RCV Id:
RCV002419431
dbSNP Id:
rs561854371
ExAC:
11:6637970 C / G
gnomAD v2:
11-6637970-C-G
gnomAD v3:
11-6616739-C-G
gnomAD v4:
11-6616739-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616739C>G , CM000673.2:g.6616739C>G | GRCh38 |
| NC_000011.9:g.6637970C>G , CM000673.1:g.6637970C>G | GRCh37 |
| NC_000011.8:g.6594546C>G | NCBI36 |
| NG_008653.1:g.7723G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.694G>C | ENSP00000507321.1:p.Gly232Arg | |
| ENST00000299427.12:c.808G>C MANE Select | ENSP00000299427.6:p.Gly270Arg | |
| ENST00000436873.7:c.312+562G>C | ||
| ENST00000524788.2:n.1967G>C | ||
| ENST00000524903.2:n.2083G>C | ||
| ENST00000528807.2:n.464G>C | ||
| ENST00000530040.2:n.480-236G>C | ||
| ENST00000533371.6:c.79G>C | ENSP00000437066.1:p.Gly27Arg | |
| ENST00000642892.1:c.79G>C | ENSP00000494165.1:p.Gly27Arg | |
| ENST00000643439.1:c.*548G>C | ENSP00000495849.1:n.*548G>C | |
| ENST00000643479.1:n.837G>C | ||
| ENST00000643516.1:c.396-236G>C | ||
| ENST00000644151.1:n.2247G>C | ||
| ENST00000644218.1:c.808G>C | ENSP00000493574.1:p.Gly270Arg | |
| ENST00000644683.1:c.*261G>C | ENSP00000494085.1:n.*261G>C | |
| ENST00000644810.1:c.529G>C | ENSP00000495895.1:p.Gly177Arg | |
| ENST00000644831.1:n.984G>C | ||
| ENST00000644933.1:c.79G>C | ENSP00000496133.1:p.Gly27Arg | |
| ENST00000645020.1:n.2098G>C | ||
| ENST00000645285.1:c.79G>C | ENSP00000495058.1:p.Gly27Arg | |
| ENST00000645331.1:n.1174G>C | ||
| ENST00000645620.1:c.79G>C | ENSP00000493657.1:p.Gly27Arg | |
| ENST00000646777.1:n.984G>C | ||
| ENST00000647016.1:n.1288G>C | ||
| ENST00000647152.1:c.79G>C | ENSP00000495893.1:p.Gly27Arg | |
| ENST00000647209.1:c.*677G>C | ENSP00000495558.1:n.*677G>C | |
| ENST00000647346.1:n.1828G>C | ||
| ENST00000299427.10:c.808G>C | ENSP00000299427.6:p.Gly270Arg | |
| ENST00000436873.6:c.451-236G>C | ENSP00000398136.2:n.451-236G>C | |
| ENST00000524788.1:n.508G>C | ||
| ENST00000528807.1:n.358G>C | ||
| ENST00000533371.5:c.79G>C | ENSP00000437066.1:p.Gly27Arg | |
| ENST00000611494.4:c.808G>C | ENSP00000484546.1:p.Gly270Arg | |
| NM_000391.3:c.808G>C | NP_000382.3:p.Gly270Arg | |
| NM_000391.4:c.808G>C MANE Select | NP_000382.3:p.Gly270Arg |