Linked Data
ClinVar Variation Id:
178363
dbSNP Id:
rs201475256
ExAC:
5:90025559 C / T
gnomAD v2:
5-90025559-C-T
gnomAD v3:
5-90729742-C-T
gnomAD v4:
5-90729742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90729742C>T , CM000667.2:g.90729742C>T | GRCh38 |
| NC_000005.9:g.90025559C>T , CM000667.1:g.90025559C>T | GRCh37 |
| NC_000005.8:g.90061315C>T | NCBI36 |
| NG_007083.1:g.175943C>T | |
| NG_007083.2:g.205399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10527C>T MANE Select | ENSP00000384582.2:p.Ser3509= | |
| ENST00000639431.1:c.265+53533C>T | ENSP00000491057.1:n.265+53533C>T | |
| ENST00000640374.1:n.3671C>T | ||
| ENST00000640464.1:n.946C>T | ||
| ENST00000405460.6:c.10527C>T | ENSP00000384582.2:p.Ser3509= | |
| ENST00000509621.1:c.3224C>T | ||
| NM_032119.3:c.10527C>T | NP_115495.3:p.Ser3509= | |
| NR_003149.1:n.10540C>T | ||
| XM_011543675.1:c.10524C>T | XP_011541977.1:p.Ser3508= | |
| XM_011543676.1:c.10446C>T | XP_011541978.1:p.Ser3482= | |
| XM_011543677.1:c.7830C>T | XP_011541979.1:p.Ser2610= | |
| XM_011543678.1:c.10527C>T | XP_011541980.1:p.Ser3509= | |
| XM_011543679.1:c.10527C>T | XP_011541981.1:p.Ser3509= | |
| XR_948560.1:n.271+11165G>A | ||
| NM_032119.4:c.10527C>T MANE Select | NP_115495.3:p.Ser3509= | |
| XM_017009963.2:c.10548C>T | XP_016865452.1:p.Ser3516= | |
| XM_017009964.2:c.10545C>T | XP_016865453.1:p.Ser3515= | |
| XM_017009965.1:c.10545C>T | XP_016865454.1:p.Ser3515= | |
| XM_017009966.2:c.10467C>T | XP_016865455.1:p.Ser3489= | |
| XM_017009967.1:c.10452C>T | XP_016865456.1:p.Ser3484= | |
| XM_017009968.2:c.10548C>T | XP_016865457.1:p.Ser3516= | |
| XM_017009969.2:c.10548C>T | XP_016865458.1:p.Ser3516= | |
| XM_017009970.2:c.10548C>T | XP_016865459.1:p.Ser3516= | |
| XM_017009971.2:c.10548C>T | XP_016865460.1:p.Ser3516= | |
| XM_017009972.1:c.3666C>T | XP_016865461.1:p.Ser1222= | |
| XM_017009973.1:c.3645C>T | XP_016865462.1:p.Ser1215= | |
| XM_017009974.2:c.10548C>T | XP_016865463.1:p.Ser3516= | |
| XR_001742802.1:n.2522+11165G>A | ||
| NR_003149.2:n.10543C>T |