Linked Data
ClinVar Variation Id:
349372
dbSNP Id:
rs200970775
ExAC:
4:650654 C / T
gnomAD v2:
4-650654-C-T
gnomAD v3:
4-656865-C-T
gnomAD v4:
4-656865-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.656865C>T , CM000666.2:g.656865C>T | GRCh38 |
| NC_000004.11:g.650654C>T , CM000666.1:g.650654C>T | GRCh37 |
| NC_000004.10:g.640654C>T | NCBI36 |
| NG_009839.1:g.36292C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.1108-9C>T MANE Select | ENSP00000420295.1:n.1108-9C>T | |
| ENST00000255622.10:c.1108-9C>T | ENSP00000255622.6:n.1108-9C>T | |
| ENST00000429163.6:c.271-9C>T | ENSP00000406334.2:n.271-9C>T | |
| ENST00000487902.5:c.223-9C>T | ENSP00000418256.1:n.223-9C>T | |
| ENST00000496514.5:c.1108-9C>T | ENSP00000420295.1:n.1108-9C>T | |
| NM_000283.3:c.1108-9C>T | NP_000274.2:n.1108-9C>T | |
| NM_001145291.1:c.1108-9C>T | NP_001138763.1:n.1108-9C>T | |
| NM_001145292.1:c.271-9C>T | NP_001138764.1:n.271-9C>T | |
| XM_011513473.1:c.1327-9C>T | XP_011511775.1:n.1327-9C>T | |
| XM_011513474.1:c.1327-9C>T | XP_011511776.1:n.1327-9C>T | |
| XM_011513475.1:c.1108-9C>T | XP_011511777.1:n.1108-9C>T | |
| XM_011513476.1:c.1327-9C>T | XP_011511778.1:n.1327-9C>T | |
| XM_011513477.1:c.313-9C>T | XP_011511779.1:n.313-9C>T | |
| XM_011513478.1:c.37-9C>T | XP_011511780.1:n.37-9C>T | |
| NM_001350154.1:c.271-9C>T | NP_001337083.1:n.271-9C>T | |
| NM_001350155.1:c.-48-9C>T | NP_001337084.1:n.-48-9C>T | |
| XM_011513473.3:c.1327-9C>T | XP_011511775.1:n.1327-9C>T | |
| XM_011513474.3:c.1327-9C>T | XP_011511776.1:n.1327-9C>T | |
| XM_011513475.2:c.1108-9C>T | XP_011511777.1:n.1108-9C>T | |
| XM_011513476.3:c.1327-9C>T | XP_011511778.1:n.1327-9C>T | |
| XM_011513478.2:c.37-9C>T | XP_011511780.1:n.37-9C>T | |
| XM_017008284.1:c.271-9C>T | XP_016863773.1:n.271-9C>T | |
| XM_017008285.1:c.271-9C>T | XP_016863774.1:n.271-9C>T | |
| XM_017008286.1:c.271-9C>T | XP_016863775.1:n.271-9C>T | |
| NM_001350154.2:c.271-9C>T | NP_001337083.1:n.271-9C>T | |
| NM_001350155.2:c.-48-9C>T | NP_001337084.1:n.-48-9C>T | |
| NM_000283.4:c.1108-9C>T MANE Select | NP_000274.3:n.1108-9C>T | |
| NM_001145291.2:c.1108-9C>T | NP_001138763.2:n.1108-9C>T | |
| NM_001145292.2:c.271-9C>T | NP_001138764.2:n.271-9C>T | |
| NM_001350154.3:c.271-9C>T | NP_001337083.1:n.271-9C>T | |
| NM_001350155.3:c.-48-9C>T | NP_001337084.1:n.-48-9C>T | |
| NM_001379246.1:c.271-9C>T | NP_001366175.1:n.271-9C>T | |
| NM_001379247.1:c.271-9C>T | NP_001366176.1:n.271-9C>T |