Linked Data
ClinVar Variation Id:
1111776
ClinVar RCV Id:
RCV001438449
dbSNP Id:
rs746190871
ExAC:
5:45462020 A / G
gnomAD v2:
5-45462020-A-G
gnomAD v3:
5-45461918-A-G
gnomAD v4:
5-45461918-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45461918A>G , CM000667.2:g.45461918A>G | GRCh38 |
| NC_000005.9:g.45462020A>G , CM000667.1:g.45462020A>G | GRCh37 |
| NC_000005.8:g.45497777A>G | NCBI36 |
| NG_042183.1:g.239201T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.939T>C MANE Select | ENSP00000307342.4:p.Gly313= | |
| ENST00000637305.1:n.102T>C | ||
| ENST00000673735.1:c.939T>C | ENSP00000501107.1:p.Gly313= | |
| ENST00000303230.5:c.939T>C | ENSP00000307342.4:p.Gly313= | |
| NM_021072.3:c.939T>C | NP_066550.2:p.Gly313= | |
| NM_021072.4:c.939T>C MANE Select | NP_066550.2:p.Gly313= |