Linked Data
ClinVar Variation Id:
43250
dbSNP Id:
rs111033511
ExAC:
11:76910630 C / T
gnomAD v2:
11-76910630-C-T
gnomAD v3:
11-77199585-C-T
gnomAD v4:
11-77199585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77199585C>T , CM000673.2:g.77199585C>T | GRCh38 |
| NC_000011.9:g.76910630C>T , CM000673.1:g.76910630C>T | GRCh37 |
| NC_000011.8:g.76588278C>T | NCBI36 |
| NG_009086.1:g.76321C>T | |
| NG_009086.2:g.76340C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.4619C>T MANE Select | ENSP00000386331.3:p.Ala1540Val | |
| ENST00000670577.1:c.2460C>T | ||
| ENST00000409619.6:c.4536-64C>T | ENSP00000386635.2:n.4536-64C>T | |
| ENST00000409709.7:c.4619C>T | ENSP00000386331.3:p.Ala1540Val | |
| ENST00000458169.2:c.2112-64C>T | ENSP00000417017.2:n.2112-64C>T | |
| ENST00000458637.6:c.4569-64C>T | ENSP00000392185.2:n.4569-64C>T | |
| ENST00000481328.7:n.2222-64C>T | ||
| NM_000260.3:c.4619C>T | NP_000251.3:p.Ala1540Val | |
| NM_001127180.1:c.4569-64C>T | NP_001120652.1:n.4569-64C>T | |
| XM_005274012.2:c.4569-64C>T | XP_005274069.1:n.4569-64C>T | |
| XM_006718558.2:c.4677-64C>T | XP_006718621.1:n.4677-64C>T | |
| XM_006718559.2:c.4569-64C>T | XP_006718622.1:n.4569-64C>T | |
| XM_006718560.2:c.4569-64C>T | XP_006718623.1:n.4569-64C>T | |
| XM_006718561.2:c.4569-64C>T | XP_006718624.1:n.4569-64C>T | |
| XM_011545044.1:c.4619C>T | XP_011543346.1:p.Ala1540Val | |
| XM_011545045.1:c.4677-64C>T | XP_011543347.1:n.4677-64C>T | |
| XM_011545046.1:c.4586C>T | XP_011543348.1:p.Ala1529Val | |
| XM_011545047.1:c.4587-64C>T | XP_011543349.1:n.4587-64C>T | |
| XM_011545048.1:c.4458-64C>T | XP_011543350.1:n.4458-64C>T | |
| XM_011545049.1:c.4446-64C>T | XP_011543351.1:n.4446-64C>T | |
| XM_011545050.1:c.4419-64C>T | XP_011543352.1:n.4419-64C>T | |
| XM_011545051.1:c.4619C>T | XP_011543353.1:p.Ala1540Val | |
| XM_011545052.1:c.4619C>T | XP_011543354.1:p.Ala1540Val | |
| XR_949938.1:n.4939C>T | ||
| XR_949941.1:n.4939C>T | ||
| XR_949942.1:n.4941C>T | ||
| XM_011545044.2:c.4619C>T | XP_011543346.1:p.Ala1540Val | |
| XM_011545046.2:c.4709C>T | XP_011543348.2:p.Ala1570Val | |
| XM_011545050.2:c.4419-64C>T | XP_011543352.1:n.4419-64C>T | |
| XM_017017778.1:c.4767-64C>T | XP_016873267.1:n.4767-64C>T | |
| XM_017017779.1:c.4767-64C>T | XP_016873268.1:n.4767-64C>T | |
| XM_017017780.1:c.4709C>T | XP_016873269.1:p.Ala1570Val | |
| XM_017017781.1:c.4677-64C>T | XP_016873270.1:n.4677-64C>T | |
| XM_017017782.1:c.4659-64C>T | XP_016873271.1:n.4659-64C>T | |
| XM_017017783.1:c.4659-64C>T | XP_016873272.1:n.4659-64C>T | |
| XM_017017784.1:c.4659-64C>T | XP_016873273.1:n.4659-64C>T | |
| XM_017017785.1:c.4536-64C>T | XP_016873274.1:n.4536-64C>T | |
| XM_017017786.1:c.4709C>T | XP_016873275.1:p.Ala1570Val | |
| XM_017017788.1:c.4659-64C>T | XP_016873277.1:n.4659-64C>T | |
| XR_001747885.1:n.4724C>T | ||
| XR_001747886.1:n.4724C>T | ||
| XR_001747887.1:n.4724C>T | ||
| XR_001747888.1:n.4724C>T | ||
| NM_000260.4:c.4619C>T MANE Select | NP_000251.3:p.Ala1540Val | |
| NM_001127180.2:c.4569-64C>T | NP_001120652.1:n.4569-64C>T | |
| NM_001369365.1:c.4536-64C>T | NP_001356294.1:n.4536-64C>T |