Linked Data
ClinVar Variation Id:
292905
ClinVar RCV Id:
RCV000363743
dbSNP Id:
rs765777463
ExAC:
1:15766801 A / G
gnomAD v2:
1-15766801-A-G
gnomAD v4:
1-15440305-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15440305A>G , CM000663.2:g.15440305A>G | GRCh38 |
| NC_000001.10:g.15766801A>G , CM000663.1:g.15766801A>G | GRCh37 |
| NC_000001.9:g.15639388A>G | NCBI36 |
| NG_009253.1:g.6864A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.46A>G MANE Select | ENSP00000365116.4:p.Ser16Gly | |
| ENST00000375943.6:c.40+1801A>G | ENSP00000365110.2:n.40+1801A>G | |
| ENST00000375949.4:c.46A>G | ENSP00000365116.4:p.Ser16Gly | |
| ENST00000476813.5:n.52+1801A>G | ||
| NM_007272.2:c.46A>G | NP_009203.2:p.Ser16Gly | |
| XM_011540550.1:c.46A>G | XP_011538852.1:p.Ser16Gly | |
| NM_007272.3:c.46A>G MANE Select | NP_009203.2:p.Ser16Gly |