Linked Data
ClinVar Variation Id:
260656
dbSNP Id:
rs144115061
ExAC:
18:2796113 T / G
gnomAD v2:
18-2796113-T-G
gnomAD v3:
18-2796115-T-G
gnomAD v4:
18-2796115-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2796115T>G , CM000680.2:g.2796115T>G | GRCh38 |
| NC_000018.9:g.2796113T>G , CM000680.1:g.2796113T>G | GRCh37 |
| NC_000018.8:g.2786113T>G | NCBI36 |
| NG_031972.1:g.145228T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685656.1:n.2185+8T>G | ||
| ENST00000686763.1:c.*1437+8T>G | ENSP00000510263.1:n.*1437+8T>G | |
| ENST00000686864.1:c.2569+8T>G | ||
| ENST00000688342.1:c.5746+8T>G | ENSP00000508422.1:n.5746+8T>G | |
| ENST00000688708.1:n.4607+8T>G | ||
| ENST00000688964.1:n.2387+8T>G | ||
| ENST00000689034.1:n.3825+8T>G | ||
| ENST00000689800.1:n.1995+8T>G | ||
| ENST00000320876.11:c.5878+8T>G MANE Select | ENSP00000326603.7:n.5878+8T>G | |
| ENST00000642953.1:c.780+8T>G | ||
| ENST00000645355.1:c.1923+8T>G | ||
| ENST00000320876.10:c.5878+8T>G | ENSP00000326603.6:n.5878+8T>G | |
| ENST00000577880.5:c.4434+8T>G | ENSP00000463049.1:n.4434+8T>G | |
| ENST00000583800.1:c.9+8T>G | ||
| ENST00000584897.5:c.3627+8T>G | ||
| NM_015295.2:c.5878+8T>G | NP_056110.2:n.5878+8T>G | |
| XM_011525642.1:c.5878+8T>G | XP_011523944.1:n.5878+8T>G | |
| XM_011525643.1:c.5878+8T>G | XP_011523945.1:n.5878+8T>G | |
| XM_011525644.1:c.5494+8T>G | XP_011523946.1:n.5494+8T>G | |
| XM_011525645.1:c.5314+8T>G | XP_011523947.1:n.5314+8T>G | |
| XR_430039.1:n.5996+8T>G | ||
| XM_011525643.2:c.5878+8T>G | XP_011523945.1:n.5878+8T>G | |
| XM_017025684.1:c.5314+8T>G | XP_016881173.1:n.5314+8T>G | |
| XR_001753172.1:n.6067+8T>G | ||
| XR_001753173.1:n.6067+8T>G | ||
| XR_001753174.1:n.5996+8T>G | ||
| XR_001753175.1:n.5996+8T>G | ||
| XR_001753176.1:n.5876+8T>G | ||
| XR_001753177.1:n.5979+8T>G | ||
| XR_001753178.1:n.5916+8T>G | ||
| NM_015295.3:c.5878+8T>G MANE Select | NP_056110.2:n.5878+8T>G |