Linked Data
ClinVar Variation Id:
1356597
ClinVar RCV Id:
RCV001880459
dbSNP Id:
rs777994015
ExAC:
17:40695882 A / G
gnomAD v2:
17-40695882-A-G
gnomAD v3:
17-42543864-A-G
gnomAD v4:
17-42543864-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543864A>G , CM000679.2:g.42543864A>G | GRCh38 |
| NC_000017.10:g.40695882A>G , CM000679.1:g.40695882A>G | GRCh37 |
| NC_000017.9:g.37949408A>G | NCBI36 |
| NG_011552.1:g.12932A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1858A>G MANE Select | ENSP00000225927.1:p.Ser620Gly | |
| ENST00000225927.6:c.1858A>G | ENSP00000225927.1:p.Ser620Gly | |
| ENST00000591587.1:c.1196A>G | ENSP00000467836.1:n.1196A>G | |
| NM_000263.3:c.1858A>G | NP_000254.2:p.Ser620Gly | |
| XM_006721920.2:c.1027A>G | XP_006721983.1:p.Ser343Gly | |
| XM_011524840.1:c.859A>G | XP_011523142.1:p.Ser287Gly | |
| XM_017024687.1:c.1027A>G | XP_016880176.1:p.Ser343Gly | |
| XM_024450771.1:c.1915A>G | XP_024306539.1:p.Ser639Gly | |
| XM_024450772.1:c.859A>G | XP_024306540.1:p.Ser287Gly | |
| NM_000263.4:c.1858A>G MANE Select | NP_000254.2:p.Ser620Gly |