Linked Data
ClinVar Variation Id:
224741
ClinVar RCV Id:
RCV000210313
dbSNP Id:
rs758052437
gnomAD v2:
4-656932-G-T
gnomAD v4:
4-663143-G-T
PubMed:
PMID:26872967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.663143G>T , CM000666.2:g.663143G>T | GRCh38 |
| NC_000004.11:g.656932G>T , CM000666.1:g.656932G>T | GRCh37 |
| NC_000004.10:g.646932G>T | NCBI36 |
| NG_009839.1:g.42570G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.1876G>T MANE Select | ENSP00000420295.1:p.Glu626Ter | |
| ENST00000255622.10:c.1876G>T | ENSP00000255622.6:p.Glu626Ter | |
| ENST00000429163.6:c.1039G>T | ENSP00000406334.2:p.Glu347Ter | |
| ENST00000496514.5:c.1876G>T | ENSP00000420295.1:p.Glu626Ter | |
| NM_000283.3:c.1876G>T | NP_000274.2:p.Glu626Ter | |
| NM_001145291.1:c.1876G>T | NP_001138763.1:p.Glu626Ter | |
| NM_001145292.1:c.1039G>T | NP_001138764.1:p.Glu347Ter | |
| XM_011513473.1:c.2095G>T | XP_011511775.1:p.Glu699Ter | |
| XM_011513474.1:c.2095G>T | XP_011511776.1:p.Glu699Ter | |
| XM_011513475.1:c.1876G>T | XP_011511777.1:p.Glu626Ter | |
| XM_011513476.1:c.2095G>T | XP_011511778.1:p.Glu699Ter | |
| XM_011513477.1:c.1081G>T | XP_011511779.1:p.Glu361Ter | |
| XM_011513478.1:c.805G>T | XP_011511780.1:p.Glu269Ter | |
| XR_925029.1:n.195+59C>A | ||
| NM_001350154.1:c.1039G>T | NP_001337083.1:p.Glu347Ter | |
| NM_001350155.1:c.721G>T | NP_001337084.1:p.Glu241Ter | |
| XM_011513473.3:c.2095G>T | XP_011511775.1:p.Glu699Ter | |
| XM_011513474.3:c.2095G>T | XP_011511776.1:p.Glu699Ter | |
| XM_011513475.2:c.1876G>T | XP_011511777.1:p.Glu626Ter | |
| XM_011513476.3:c.2095G>T | XP_011511778.1:p.Glu699Ter | |
| XM_011513478.2:c.805G>T | XP_011511780.1:p.Glu269Ter | |
| XM_017008284.1:c.1039G>T | XP_016863773.1:p.Glu347Ter | |
| XM_017008285.1:c.1039G>T | XP_016863774.1:p.Glu347Ter | |
| XM_017008286.1:c.1039G>T | XP_016863775.1:p.Glu347Ter | |
| NM_001350154.2:c.1039G>T | NP_001337083.1:p.Glu347Ter | |
| NM_001350155.2:c.721G>T | NP_001337084.1:p.Glu241Ter | |
| NM_000283.4:c.1876G>T MANE Select | NP_000274.3:p.Glu626Ter | |
| NM_001145291.2:c.1876G>T | NP_001138763.2:p.Glu626Ter | |
| NM_001145292.2:c.1039G>T | NP_001138764.2:p.Glu347Ter | |
| NM_001350154.3:c.1039G>T | NP_001337083.1:p.Glu347Ter | |
| NM_001350155.3:c.721G>T | NP_001337084.1:p.Glu241Ter | |
| NM_001379246.1:c.1039G>T | NP_001366175.1:p.Glu347Ter | |
| NM_001379247.1:c.1039G>T | NP_001366176.1:p.Glu347Ter |