Linked Data
dbSNP Id:
rs771475327
ExAC:
10:103534583 C / G
gnomAD v2:
10-103534583-C-G
gnomAD v3:
10-101774826-C-G
gnomAD v4:
10-101774826-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101774826C>G , CM000672.2:g.101774826C>G | GRCh38 |
| NC_000010.10:g.103534583C>G , CM000672.1:g.103534583C>G | GRCh37 |
| NC_000010.9:g.103524573C>G | NCBI36 |
| NG_007151.1:g.6245G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320185.7:c.243G>C MANE Select | ENSP00000321797.2:p.Arg81= | |
| ENST00000618991.5:c.-70G>C | ENSP00000484420.1:n.-70G>C | |
| ENST00000344255.8:c.210G>C | ENSP00000340039.3:p.Arg70= | |
| ENST00000320185.6:c.243G>C | ENSP00000321797.2:p.Arg81= | |
| ENST00000344255.7:c.210G>C | ENSP00000340039.3:p.Arg70= | |
| ENST00000346714.7:c.123G>C | ENSP00000344306.3:p.Arg41= | |
| ENST00000347978.2:c.156G>C | ENSP00000321945.2:p.Arg52= | |
| ENST00000469792.6:c.*207G>C | ENSP00000473299.1:n.*207G>C | |
| ENST00000485728.1:n.119G>C | ||
| ENST00000618991.4:c.-70G>C | ENSP00000484420.1:n.-70G>C | |
| NM_001206389.1:c.-70G>C | NP_001193318.1:n.-70G>C | |
| NM_006119.4:c.156G>C | NP_006110.1:p.Arg52= | |
| NM_033163.3:c.243G>C | NP_149353.1:p.Arg81= | |
| NM_033164.3:c.210G>C | NP_149354.1:p.Arg70= | |
| NM_033165.3:c.123G>C | NP_149355.1:p.Arg41= | |
| XM_011539509.1:c.165G>C | XP_011537811.1:p.Arg55= | |
| NM_006119.5:c.156G>C | NP_006110.1:p.Arg52= | |
| NM_033163.4:c.243G>C | NP_149353.1:p.Arg81= | |
| NM_033164.4:c.210G>C | NP_149354.1:p.Arg70= | |
| NM_033165.4:c.123G>C | NP_149355.1:p.Arg41= | |
| NM_001206389.2:c.-70G>C | NP_001193318.1:n.-70G>C | |
| NM_006119.6:c.156G>C | NP_006110.1:p.Arg52= | |
| NM_033163.5:c.243G>C MANE Select | NP_149353.1:p.Arg81= | |
| NM_033165.5:c.123G>C | NP_149355.1:p.Arg41= |