Linked Data
ClinVar Variation Id:
335763
dbSNP Id:
rs45562835
ExAC:
2:31570415 G / A
gnomAD v2:
2-31570415-G-A
gnomAD v3:
2-31347549-G-A
gnomAD v4:
2-31347549-G-A
COSMIC:
COSM4093811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31347549G>A , CM000664.2:g.31347549G>A | GRCh38 |
| NC_000002.11:g.31570415G>A , CM000664.1:g.31570415G>A | GRCh37 |
| NC_000002.10:g.31423919G>A | NCBI36 |
| NG_008871.1:g.72197C>T | |
| NG_008871.2:g.72197C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379416.4:c.3249C>T MANE Select | ENSP00000368727.3:p.Ser1083= | |
| ENST00000379416.3:c.3249C>T | ENSP00000368727.3:p.Ser1083= | |
| NM_000379.3:c.3249C>T | NP_000370.2:p.Ser1083= | |
| XM_011533095.1:c.3246C>T | XP_011531397.1:p.Ser1082= | |
| XM_011533095.2:c.3246C>T | XP_011531397.1:p.Ser1082= | |
| NM_000379.4:c.3249C>T MANE Select | NP_000370.2:p.Ser1083= |