Linked Data
ClinVar Variation Id:
3175969
ClinVar RCV Id:
RCV004469778
dbSNP Id:
rs779399051
ExAC:
11:78369261 G / A
gnomAD v2:
11-78369261-G-A
gnomAD v3:
11-78658216-G-A
gnomAD v4:
11-78658216-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78658216G>A , CM000673.2:g.78658216G>A | GRCh38 |
| NC_000011.9:g.78369261G>A , CM000673.1:g.78369261G>A | GRCh37 |
| NC_000011.8:g.78046909G>A | NCBI36 |
| NG_051803.1:g.787436C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278550.12:c.8152C>T MANE Select | ENSP00000278550.7:p.Arg2718Trp | |
| ENST00000278550.11:c.8152C>T | ENSP00000278550.7:p.Arg2718Trp | |
| ENST00000530738.1:c.2801-162C>T | ENSP00000431711.1:n.2801-162C>T | |
| ENST00000612046.4:c.8152C>T | ENSP00000483150.1:p.Arg2718Trp | |
| NM_001098816.2:c.8152C>T | NP_001092286.2:p.Arg2718Trp | |
| XM_011544924.1:c.8200C>T | XP_011543226.1:p.Arg2734Trp | |
| XM_011544925.1:c.8200C>T | XP_011543227.1:p.Arg2734Trp | |
| XM_011544927.1:c.8179C>T | XP_011543229.1:p.Arg2727Trp | |
| XM_011544928.1:c.8125C>T | XP_011543230.1:p.Arg2709Trp | |
| XM_011544929.1:c.8101C>T | XP_011543231.1:p.Arg2701Trp | |
| XM_011544930.1:c.7996C>T | XP_011543232.1:p.Arg2666Trp | |
| XM_011544931.1:c.7039C>T | XP_011543233.1:p.Arg2347Trp | |
| XM_011544932.1:c.5653C>T | XP_011543234.1:p.Arg1885Trp | |
| XM_011544933.1:c.5596C>T | XP_011543235.1:p.Arg1866Trp | |
| XM_011544934.1:c.4051C>T | XP_011543236.1:p.Arg1351Trp | |
| XM_011544933.3:c.5596C>T | XP_011543235.1:p.Arg1866Trp | |
| XM_017017525.1:c.8227C>T | XP_016873014.1:p.Arg2743Trp | |
| XM_017017526.1:c.8152C>T | XP_016873015.1:p.Arg2718Trp | |
| NM_001098816.3:c.8152C>T MANE Select | NP_001092286.2:p.Arg2718Trp |