Linked Data
ClinVar Variation Id:
1879083
ClinVar RCV Id:
RCV002511582
dbSNP Id:
rs138059318
ExAC:
1:36025977 G / T
gnomAD v2:
1-36025977-G-T
gnomAD v3:
1-35560376-G-T
gnomAD v4:
1-35560376-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.35560376G>T , CM000663.2:g.35560376G>T | GRCh38 |
| NC_000001.10:g.36025977G>T , CM000663.1:g.36025977G>T | GRCh37 |
| NC_000001.9:g.35798564G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373243.7:c.225G>T MANE Select | ENSP00000362340.2:p.Arg75= | |
| ENST00000356090.8:c.225G>T | ENSP00000348394.4:p.Arg75= | |
| ENST00000373243.6:c.225G>T | ENSP00000362340.2:p.Arg75= | |
| ENST00000373253.7:c.174G>T | ENSP00000362350.3:p.Arg58= | |
| ENST00000437806.1:c.174G>T | ENSP00000406511.1:p.Arg58= | |
| ENST00000459931.1:n.574G>T | ||
| NM_001014839.1:c.225G>T | NP_001014839.1:p.Arg75= | |
| NM_001014841.1:c.174G>T | NP_001014841.1:p.Arg58= | |
| NM_014284.2:c.225G>T | NP_055099.1:p.Arg75= | |
| NM_014284.3:c.225G>T MANE Select | NP_055099.1:p.Arg75= | |
| NM_001014839.2:c.225G>T | NP_001014839.1:p.Arg75= | |
| NM_001014841.2:c.174G>T | NP_001014841.1:p.Arg58= |