Linked Data
ClinVar Variation Id:
498023
dbSNP Id:
rs377135853
ExAC:
1:2340244 G / A
gnomAD v2:
1-2340244-G-A
gnomAD v3:
1-2408805-G-A
gnomAD v4:
1-2408805-G-A
COSMIC:
COSM1220211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2408805G>A , CM000663.2:g.2408805G>A | GRCh38 |
| NC_000001.10:g.2340244G>A , CM000663.1:g.2340244G>A | GRCh37 |
| NC_000001.9:g.2330104G>A | NCBI36 |
| NG_008342.1:g.8767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.247C>T | ENSP00000288774.3:p.Arg83Trp | |
| ENST00000447513.7:c.247C>T MANE Select | ENSP00000407922.2:p.Arg83Trp | |
| ENST00000650293.1:c.201C>T | ||
| ENST00000288774.7:c.247C>T | ENSP00000288774.3:p.Arg83Trp | |
| ENST00000447513.6:c.247C>T | ENSP00000407922.2:p.Arg83Trp | |
| ENST00000502666.1:c.452C>T | ENSP00000461951.1:n.452C>T | |
| ENST00000507596.5:c.247C>T | ENSP00000424291.1:p.Arg83Trp | |
| ENST00000508384.5:c.-186C>T | ENSP00000464289.1:n.-186C>T | |
| ENST00000510434.1:c.247C>T | ENSP00000423051.1:p.Arg83Trp | |
| ENST00000514502.1:c.*264C>T | ENSP00000425924.1:n.*264C>T | |
| ENST00000515760.1:n.381C>T | ||
| NM_002617.3:c.247C>T | NP_002608.1:p.Arg83Trp | |
| NM_153818.1:c.247C>T | NP_722540.1:p.Arg83Trp | |
| XM_011541573.1:c.247C>T | XP_011539875.1:p.Arg83Trp | |
| XM_011541574.1:c.-186C>T | XP_011539876.1:n.-186C>T | |
| XM_011541575.1:c.-186C>T | XP_011539877.1:n.-186C>T | |
| XM_011541576.1:c.247C>T | XP_011539878.1:p.Arg83Trp | |
| XR_946666.1:n.367C>T | ||
| XM_011541576.2:c.247C>T | XP_011539878.1:p.Arg83Trp | |
| XR_946666.2:n.316C>T | ||
| NM_001374425.1:c.247C>T | NP_001361354.1:p.Arg83Trp | |
| NM_001374426.1:c.-186C>T | NP_001361355.1:n.-186C>T | |
| NM_001374427.1:c.-186C>T | NP_001361356.1:n.-186C>T | |
| NM_002617.4:c.247C>T MANE Select | NP_002608.1:p.Arg83Trp | |
| NM_153818.2:c.247C>T | NP_722540.1:p.Arg83Trp | |
| NR_164636.1:n.366C>T |