Linked Data
ClinVar Variation Id:
21726
dbSNP Id:
rs3735231
ExAC:
7:23015831 T / C
gnomAD v2:
7-23015831-T-C
gnomAD v3:
7-22976212-T-C
gnomAD v4:
7-22976212-T-C
PubMed:
PMID:20301737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22976212T>C , CM000669.2:g.22976212T>C | GRCh38 |
| NC_000007.13:g.23015831T>C , CM000669.1:g.23015831T>C | GRCh37 |
| NC_000007.12:g.22982356T>C | NCBI36 |
| NG_008392.1:g.42940A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432176.7:c.624A>G MANE Select | ENSP00000403396.2:p.Ser208= | |
| ENST00000440481.6:c.192A>G | ENSP00000397168.2:p.Ser64= | |
| ENST00000465661.2:n.815A>G | ||
| ENST00000679789.1:c.624A>G | ENSP00000506308.1:p.Ser208= | |
| ENST00000679826.1:c.192A>G | ENSP00000505460.1:p.Ser64= | |
| ENST00000680721.1:n.647A>G | ||
| ENST00000681079.1:c.624A>G | ENSP00000506370.1:p.Ser208= | |
| ENST00000681237.1:c.*280A>G | ENSP00000505270.1:n.*280A>G | |
| ENST00000681402.1:c.*334A>G | ENSP00000506692.1:n.*334A>G | |
| ENST00000681766.1:c.624A>G | ENSP00000505161.1:p.Ser208= | |
| ENST00000409923.5:c.624A>G | ENSP00000386246.1:p.Ser208= | |
| ENST00000432176.6:c.624A>G | ENSP00000403396.2:p.Ser208= | |
| ENST00000440481.5:c.779A>G | ||
| NM_032581.3:c.624A>G | NP_115970.2:p.Ser208= | |
| XM_005249894.3:c.624A>G | XP_005249951.1:p.Ser208= | |
| XM_005249895.1:c.624A>G | XP_005249952.1:p.Ser208= | |
| XM_006715799.2:c.99A>G | XP_006715862.1:p.Ser33= | |
| XM_011515589.1:c.624A>G | XP_011513891.1:p.Ser208= | |
| XM_011515590.1:c.624A>G | XP_011513892.1:p.Ser208= | |
| NM_001363466.1:c.624A>G | NP_001350395.1:p.Ser208= | |
| NM_001363467.1:c.624A>G | NP_001350396.1:p.Ser208= | |
| XM_011515589.2:c.624A>G | XP_011513891.1:p.Ser208= | |
| XM_011515590.2:c.624A>G | XP_011513892.1:p.Ser208= | |
| NM_001363466.2:c.624A>G | NP_001350395.1:p.Ser208= | |
| NM_001363467.2:c.624A>G | NP_001350396.1:p.Ser208= | |
| NM_032581.4:c.624A>G MANE Select | NP_115970.2:p.Ser208= |