Linked Data
ClinVar Variation Id:
2969485
ClinVar RCV Id:
RCV003827155
dbSNP Id:
rs770483717
ExAC:
4:126238742 G / C
gnomAD v2:
4-126238742-G-C
gnomAD v4:
4-125317587-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125317587G>C , CM000666.2:g.125317587G>C | GRCh38 |
| NC_000004.11:g.126238742G>C , CM000666.1:g.126238742G>C | GRCh37 |
| NC_000004.10:g.126458192G>C | NCBI36 |
| NG_033865.1:g.6176G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.1176G>C MANE Select | ENSP00000377862.4:p.Gly392= | |
| ENST00000674496.2:c.-55+1610G>C | ENSP00000501473.2:n.-55+1610G>C | |
| ENST00000394329.7:c.1176G>C | ENSP00000377862.3:p.Gly392= | |
| NM_001291285.1:c.1176G>C | NP_001278214.1:p.Gly392= | |
| NM_001291303.1:c.1176G>C | NP_001278232.1:p.Gly392= | |
| NM_024582.4:c.1176G>C | NP_078858.4:p.Gly392= | |
| XM_011532236.1:c.1176G>C | XP_011530538.1:p.Gly392= | |
| XM_011532237.1:c.-55+1610G>C | XP_011530539.1:n.-55+1610G>C | |
| XM_011532236.2:c.1176G>C | XP_011530538.1:p.Gly392= | |
| XM_011532237.2:c.-55+1610G>C | XP_011530539.1:n.-55+1610G>C | |
| NM_001291285.2:c.1176G>C | NP_001278214.1:p.Gly392= | |
| NM_001291303.3:c.1176G>C MANE Select | NP_001278232.1:p.Gly392= | |
| NM_024582.5:c.1176G>C | NP_078858.4:p.Gly392= | |
| NM_001291285.3:c.1176G>C | NP_001278214.1:p.Gly392= | |
| NM_024582.6:c.1176G>C | NP_078858.4:p.Gly392= |