Linked Data
ClinVar Variation Id:
293239
dbSNP Id:
rs114493458
gnomAD v2:
1-161136225-G-T
gnomAD v3:
1-161166435-G-T
gnomAD v4:
1-161166435-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161166435G>T , CM000663.2:g.161166435G>T | GRCh38 |
| NC_000001.10:g.161136225G>T , CM000663.1:g.161136225G>T | GRCh37 |
| NC_000001.9:g.159402849G>T | NCBI36 |
| NG_012877.1:g.5045G>T | |
| NG_012877.2:g.5045G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367999.9:c.-246G>T MANE Select | ENSP00000356978.4:n.-246G>T | |
| ENST00000652729.1:c.-9+262G>T | ENSP00000498609.1:n.-9+262G>T | |
| ENST00000352210.9:c.-185G>T | ENSP00000343943.5:n.-185G>T | |
| ENST00000367999.8:c.-246G>T | ENSP00000356978.4:n.-246G>T | |
| ENST00000497522.5:n.6G>T | ||
| NM_000309.3:c.-185G>T | NP_000300.1:n.-185G>T | |
| NM_001122764.1:c.-246G>T | NP_001116236.1:n.-246G>T | |
| XM_005245291.3:c.-246G>T | XP_005245348.2:n.-246G>T | |
| XM_006711402.2:c.-185G>T | XP_006711465.2:n.-185G>T | |
| XM_006711403.2:c.-185G>T | XP_006711466.2:n.-185G>T | |
| XM_006711404.2:c.-9+262G>T | XP_006711467.1:n.-9+262G>T | |
| XM_006711406.2:c.-436+262G>T | XP_006711469.2:n.-436+262G>T | |
| XM_011509663.1:c.106+262G>T | XP_011507965.1:n.106+262G>T | |
| XM_011509664.1:c.106+262G>T | XP_011507966.1:n.106+262G>T | |
| XM_011509665.1:c.106+262G>T | XP_011507967.1:n.106+262G>T | |
| XM_011509666.1:c.106+262G>T | XP_011507968.1:n.106+262G>T | |
| XM_011509667.1:c.-246G>T | XP_011507969.1:n.-246G>T | |
| XM_011509669.1:c.-8-405G>T | XP_011507971.1:n.-8-405G>T | |
| XM_011509670.1:c.106+262G>T | XP_011507972.1:n.106+262G>T | |
| XM_011509671.1:c.106+262G>T | XP_011507973.1:n.106+262G>T | |
| XM_011509672.1:c.106+262G>T | XP_011507974.1:n.106+262G>T | |
| XM_011509673.1:c.106+262G>T | XP_011507975.1:n.106+262G>T | |
| XM_011509674.1:c.106+262G>T | XP_011507976.1:n.106+262G>T | |
| XM_011509675.1:c.-246G>T | XP_011507977.1:n.-246G>T | |
| XM_011509676.1:c.-809G>T | XP_011507978.1:n.-809G>T | |
| XM_011509677.1:c.-748G>T | XP_011507979.1:n.-748G>T | |
| XM_011509678.1:c.-705G>T | XP_011507980.1:n.-705G>T | |
| XR_921850.1:n.115+262G>T | ||
| NM_000309.4:c.-185G>T | NP_000300.1:n.-185G>T | |
| NM_001122764.3:c.-246G>T MANE Select | NP_001116236.1:n.-246G>T | |
| NM_001350128.1:c.-246G>T | NP_001337057.1:n.-246G>T | |
| NM_001350129.1:c.-673G>T | NP_001337058.1:n.-673G>T | |
| NM_001350130.1:c.-764G>T | NP_001337059.1:n.-764G>T | |
| NM_001350131.1:c.-589G>T | NP_001337060.1:n.-589G>T | |
| XM_005245291.4:c.-246G>T | XP_005245348.2:n.-246G>T | |
| XM_006711404.4:c.106+262G>T | XP_006711467.2:n.106+262G>T | |
| XM_011509663.2:c.106+262G>T | XP_011507965.1:n.106+262G>T | |
| XM_011509665.2:c.106+262G>T | XP_011507967.1:n.106+262G>T | |
| XM_011509666.2:c.106+262G>T | XP_011507968.1:n.106+262G>T | |
| XM_011509667.2:c.-246G>T | XP_011507969.1:n.-246G>T | |
| XM_011509670.2:c.106+262G>T | XP_011507972.1:n.106+262G>T | |
| XM_011509672.3:c.106+262G>T | XP_011507974.1:n.106+262G>T | |
| XM_011509673.2:c.106+262G>T | XP_011507975.1:n.106+262G>T | |
| XM_011509674.2:c.106+262G>T | XP_011507976.1:n.106+262G>T | |
| XM_017001559.1:c.106+262G>T | XP_016857048.1:n.106+262G>T | |
| XM_017001560.2:c.-246G>T | XP_016857049.1:n.-246G>T | |
| XM_017001563.2:c.-764G>T | XP_016857052.1:n.-764G>T | |
| XM_017001566.2:c.-705G>T | XP_016857055.1:n.-705G>T | |
| XM_017001570.1:c.-554G>T | XP_016857059.1:n.-554G>T | |
| XM_017001571.1:c.106+262G>T | XP_016857060.1:n.106+262G>T | |
| XM_024447864.1:c.106+262G>T | XP_024303632.1:n.106+262G>T | |
| XM_024447866.1:c.-644G>T | XP_024303634.1:n.-644G>T | |
| XM_024447867.1:c.-809G>T | XP_024303635.1:n.-809G>T | |
| XM_024447874.1:c.-496G>T | XP_024303642.1:n.-496G>T | |
| XM_024447877.1:c.-555G>T | XP_024303645.1:n.-555G>T | |
| XR_921850.2:n.329+262G>T | ||
| NM_000309.5:c.-185G>T | NP_000300.1:n.-185G>T | |
| NM_001350128.2:c.-246G>T | NP_001337057.1:n.-246G>T | |
| NM_001350129.2:c.-673G>T | NP_001337058.1:n.-673G>T | |
| NM_001350130.2:c.-764G>T | NP_001337059.1:n.-764G>T | |
| NM_001350131.2:c.-589G>T | NP_001337060.1:n.-589G>T | |
| NM_001365399.1:c.-246G>T | NP_001352328.1:n.-246G>T | |
| NM_001365400.1:c.-496G>T | NP_001352329.1:n.-496G>T | |
| NM_001365401.1:c.-555G>T | NP_001352330.1:n.-555G>T |