Linked Data
ClinVar Variation Id:
1183143
ClinVar RCV Id:
RCV001540923
dbSNP Id:
rs2239670
gnomAD v2:
5-71015503-A-G
gnomAD v3:
5-71719676-A-G
gnomAD v4:
5-71719676-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719676A>G , CM000667.2:g.71719676A>G | GRCh38 |
| NC_000005.9:g.71015503A>G , CM000667.1:g.71015503A>G | GRCh37 |
| NC_000005.8:g.71051259A>G | NCBI36 |
| NG_015988.1:g.5514A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296777.5:c.160-204A>G MANE Select | ENSP00000296777.4:n.160-204A>G | |
| ENST00000296777.4:c.160-204A>G | ENSP00000296777.4:n.160-204A>G | |
| ENST00000513096.1:n.98A>G | ||
| NM_004291.3:c.160-204A>G | NP_004282.1:n.160-204A>G | |
| NM_004291.4:c.160-204A>G MANE Select | NP_004282.1:n.160-204A>G |