Linked Data
ClinVar Variation Id:
3137469
ClinVar RCV Id:
RCV004427301
dbSNP Id:
rs774906197
ExAC:
5:71015127 A / G
gnomAD v2:
5-71015127-A-G
gnomAD v3:
5-71719300-A-G
gnomAD v4:
5-71719300-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719300A>G , CM000667.2:g.71719300A>G | GRCh38 |
| NC_000005.9:g.71015127A>G , CM000667.1:g.71015127A>G | GRCh37 |
| NC_000005.8:g.71050883A>G | NCBI36 |
| NG_015988.1:g.5138A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.7A>G MANE Select | ENSP00000296777.4:p.Ser3Gly | |
| ENST00000296777.4:c.7A>G | ENSP00000296777.4:p.Ser3Gly | |
| NM_004291.3:c.7A>G | NP_004282.1:p.Ser3Gly | |
| NM_004291.4:c.7A>G MANE Select | NP_004282.1:p.Ser3Gly |