Linked Data
ClinVar Variation Id:
204827
dbSNP Id:
rs796052256
gnomAD v2:
5-125919652-C-G
gnomAD v3:
5-126583960-C-G
gnomAD v4:
5-126583960-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126583960C>G , CM000667.2:g.126583960C>G | GRCh38 |
| NC_000005.9:g.125919652C>G , CM000667.1:g.125919652C>G | GRCh37 |
| NC_000005.8:g.125947551C>G | NCBI36 |
| NG_008600.2:g.16431G>C | |
| NG_008600.3:g.16431G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.365G>C MANE Select | ENSP00000387123.3:p.Arg122Pro | |
| ENST00000412186.2:c.365G>C | ENSP00000414536.2:p.Arg122Pro | |
| ENST00000413020.6:c.365G>C | ENSP00000487936.1:p.Arg122Pro | |
| ENST00000458249.6:c.*274G>C | ENSP00000403929.1:n.*274G>C | |
| ENST00000479989.6:n.548G>C | ||
| ENST00000503281.6:c.107-6749G>C | ||
| ENST00000509270.2:c.299G>C | ENSP00000449318.2:p.Arg100Pro | |
| ENST00000509459.6:c.66-6749G>C | ||
| ENST00000511266.6:n.1087G>C | ||
| ENST00000635851.1:c.363G>C | ||
| ENST00000636062.1:n.260G>C | ||
| ENST00000636190.1:n.244G>C | ||
| ENST00000636225.1:c.*174G>C | ENSP00000490797.1:n.*174G>C | |
| ENST00000636286.1:n.83G>C | ||
| ENST00000636743.1:c.245G>C | ENSP00000489725.1:p.Arg82Pro | |
| ENST00000636808.1:c.*174G>C | ENSP00000490833.1:n.*174G>C | |
| ENST00000636872.1:c.525G>C | ENSP00000490919.1:n.525G>C | |
| ENST00000636879.1:c.365G>C | ENSP00000490811.1:p.Arg122Pro | |
| ENST00000636886.1:c.193-986G>C | ENSP00000490371.1:n.193-986G>C | |
| ENST00000637206.1:c.365G>C | ENSP00000489895.1:p.Arg122Pro | |
| ENST00000637272.1:c.365G>C | ENSP00000489686.1:p.Arg122Pro | |
| ENST00000637292.1:c.18G>C | ||
| ENST00000637782.1:c.365G>C | ENSP00000490024.1:p.Arg122Pro | |
| ENST00000637964.1:c.311G>C | ENSP00000490291.1:p.Arg104Pro | |
| ENST00000638008.1:c.*307G>C | ENSP00000490400.1:n.*307G>C | |
| ENST00000409134.7:c.365G>C | ENSP00000387123.3:p.Arg122Pro | |
| ENST00000412186.1:c.*174G>C | ENSP00000414536.1:n.*174G>C | |
| ENST00000413020.5:c.365G>C | ENSP00000487936.1:p.Arg122Pro | |
| ENST00000447989.6:c.446G>C | ENSP00000414132.2:p.Arg149Pro | |
| ENST00000458249.5:c.525G>C | ENSP00000403929.1:n.525G>C | |
| ENST00000479989.5:n.548G>C | ||
| ENST00000503281.5:c.107-6749G>C | ||
| ENST00000509270.1:c.245G>C | ENSP00000449318.1:p.Arg82Pro | |
| ENST00000509459.5:c.66-6749G>C | ||
| ENST00000510111.6:c.307-986G>C | ENSP00000447388.1:n.307-986G>C | |
| ENST00000511266.5:n.320G>C | ||
| ENST00000553117.5:c.365G>C | ENSP00000448593.1:p.Arg122Pro | |
| NM_001182.4:c.365G>C | NP_001173.2:p.Arg122Pro | |
| NM_001201377.1:c.281G>C | NP_001188306.1:p.Arg94Pro | |
| NM_001202404.1:c.446G>C | NP_001189333.1:p.Arg149Pro | |
| XM_011543417.1:c.-41G>C | XP_011541719.1:n.-41G>C | |
| XM_011543417.2:c.-41G>C | XP_011541719.1:n.-41G>C | |
| NM_001182.5:c.365G>C MANE Select | NP_001173.2:p.Arg122Pro | |
| NM_001201377.2:c.281G>C | NP_001188306.1:p.Arg94Pro | |
| NM_001202404.2:c.365G>C | NP_001189333.2:p.Arg122Pro |