Linked Data
ClinVar Variation Id:
438168
dbSNP Id:
rs777309662
ExAC:
5:90074375 T / A
gnomAD v2:
5-90074375-T-A
gnomAD v4:
5-90778558-T-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90778558T>A , CM000667.2:g.90778558T>A | GRCh38 |
| NC_000005.9:g.90074375T>A , CM000667.1:g.90074375T>A | GRCh37 |
| NC_000005.8:g.90110131T>A | NCBI36 |
| NG_007083.1:g.224759T>A | |
| NG_007083.2:g.254215T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12798T>A MANE Select | ENSP00000384582.2:p.Tyr4266Ter | |
| ENST00000425867.3:c.1752T>A | ENSP00000392618.3:p.Tyr584Ter | |
| ENST00000639431.1:c.265+102349T>A | ENSP00000491057.1:n.265+102349T>A | |
| ENST00000640464.1:n.3217T>A | ||
| ENST00000405460.6:c.12798T>A | ENSP00000384582.2:p.Tyr4266Ter | |
| NM_032119.3:c.12798T>A | NP_115495.3:p.Tyr4266Ter | |
| NR_003149.1:n.12811T>A | ||
| XM_011543675.1:c.12795T>A | XP_011541977.1:p.Tyr4265Ter | |
| XM_011543676.1:c.12717T>A | XP_011541978.1:p.Tyr4239Ter | |
| XM_011543677.1:c.10101T>A | XP_011541979.1:p.Tyr3367Ter | |
| XM_011543678.1:c.12798T>A | XP_011541980.1:p.Tyr4266Ter | |
| NM_032119.4:c.12798T>A MANE Select | NP_115495.3:p.Tyr4266Ter | |
| XM_017009963.2:c.12819T>A | XP_016865452.1:p.Tyr4273Ter | |
| XM_017009964.2:c.12816T>A | XP_016865453.1:p.Tyr4272Ter | |
| XM_017009965.1:c.12816T>A | XP_016865454.1:p.Tyr4272Ter | |
| XM_017009966.2:c.12738T>A | XP_016865455.1:p.Tyr4246Ter | |
| XM_017009967.1:c.12723T>A | XP_016865456.1:p.Tyr4241Ter | |
| XM_017009968.2:c.12819T>A | XP_016865457.1:p.Tyr4273Ter | |
| XM_017009969.2:c.12819T>A | XP_016865458.1:p.Tyr4273Ter | |
| XM_017009970.2:c.12819T>A | XP_016865459.1:p.Tyr4273Ter | |
| XM_017009971.2:c.12819T>A | XP_016865460.1:p.Tyr4273Ter | |
| XM_017009972.1:c.5937T>A | XP_016865461.1:p.Tyr1979Ter | |
| XM_017009973.1:c.5916T>A | XP_016865462.1:p.Tyr1972Ter | |
| NR_003149.2:n.12814T>A |