Linked Data
ClinVar Variation Id:
2850364
ClinVar RCV Id:
RCV003688275
dbSNP Id:
rs781587260
ExAC:
11:126145338 G / A
gnomAD v2:
11-126145338-G-A
gnomAD v4:
11-126275443-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275443G>A , CM000673.2:g.126275443G>A | GRCh38 |
| NC_000011.9:g.126145338G>A , CM000673.1:g.126145338G>A | GRCh37 |
| NC_000011.8:g.125650548G>A | NCBI36 |
| NG_028029.1:g.11404G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1216+15G>A | ||
| ENST00000532101.6:n.835+15G>A | ||
| ENST00000532125.2:c.730+15G>A | ENSP00000434178.2:n.730+15G>A | |
| ENST00000533839.6:c.86-351G>A | ENSP00000509952.1:n.86-351G>A | |
| ENST00000534011.6:n.1025+15G>A | ||
| ENST00000685484.1:c.733+15G>A | ENSP00000510622.1:n.733+15G>A | |
| ENST00000685601.1:c.733+15G>A | ENSP00000510603.1:n.733+15G>A | |
| ENST00000685765.1:c.733+15G>A | ENSP00000509991.1:n.733+15G>A | |
| ENST00000685844.1:c.*270+15G>A | ENSP00000509820.1:n.*270+15G>A | |
| ENST00000685857.1:n.1487G>A | ||
| ENST00000686242.1:c.532+15G>A | ENSP00000508950.1:n.532+15G>A | |
| ENST00000686888.1:c.*300+15G>A | ENSP00000509619.1:n.*300+15G>A | |
| ENST00000687699.1:c.857+15G>A | ENSP00000508878.1:n.857+15G>A | |
| ENST00000687786.1:n.2169+15G>A | ||
| ENST00000688100.1:n.1654+15G>A | ||
| ENST00000688588.1:c.733+15G>A | ENSP00000510802.1:n.733+15G>A | |
| ENST00000688927.1:n.2944+15G>A | ||
| ENST00000689283.1:c.*396+15G>A | ENSP00000509050.1:n.*396+15G>A | |
| ENST00000689477.1:c.*626+15G>A | ENSP00000508945.1:n.*626+15G>A | |
| ENST00000689765.1:c.*226+15G>A | ENSP00000509625.1:n.*226+15G>A | |
| ENST00000690512.1:c.*584+15G>A | ENSP00000509793.1:n.*584+15G>A | |
| ENST00000692039.1:c.*531+15G>A | ENSP00000508821.1:n.*531+15G>A | |
| ENST00000692336.1:c.757+15G>A | ENSP00000508540.1:n.757+15G>A | |
| ENST00000693133.1:n.1228G>A | ||
| ENST00000263578.10:c.733+15G>A MANE Select | ENSP00000263578.5:n.733+15G>A | |
| ENST00000263578.9:c.733+15G>A | ENSP00000263578.5:n.733+15G>A | |
| ENST00000525083.5:n.453+15G>A | ||
| ENST00000525770.5:c.*365+15G>A | ENSP00000434739.1:n.*365+15G>A | |
| ENST00000527004.5:c.*77+15G>A | ENSP00000436374.1:n.*77+15G>A | |
| ENST00000530642.1:n.1530G>A | ||
| ENST00000532101.5:n.956+15G>A | ||
| ENST00000532125.1:c.691+15G>A | ENSP00000434178.1:n.691+15G>A | |
| ENST00000533395.5:n.466+15G>A | ||
| ENST00000533839.5:n.238-351G>A | ||
| ENST00000534011.5:n.785+15G>A | ||
| ENST00000534315.5:n.1045+15G>A | ||
| NM_017547.3:c.733+15G>A | NP_060017.1:n.733+15G>A | |
| NR_037647.1:n.679+15G>A | ||
| NR_037648.1:n.919+15G>A | ||
| XM_006718879.2:c.223+15G>A | XP_006718942.1:n.223+15G>A | |
| XM_006718880.2:c.100+15G>A | XP_006718943.1:n.100+15G>A | |
| XM_006718881.2:c.100+15G>A | XP_006718944.1:n.100+15G>A | |
| XM_011542895.1:c.223+15G>A | XP_011541197.1:n.223+15G>A | |
| XM_011542896.1:c.223+15G>A | XP_011541198.1:n.223+15G>A | |
| XM_006718879.3:c.223+15G>A | XP_006718942.1:n.223+15G>A | |
| XM_006718881.3:c.100+15G>A | XP_006718944.1:n.100+15G>A | |
| XM_011542895.2:c.223+15G>A | XP_011541197.1:n.223+15G>A | |
| XM_011542896.2:c.223+15G>A | XP_011541198.1:n.223+15G>A | |
| XM_017018000.2:c.733+15G>A | XP_016873489.1:n.733+15G>A | |
| XM_017018001.1:c.223+15G>A | XP_016873490.1:n.223+15G>A | |
| XM_017018002.1:c.223+15G>A | XP_016873491.1:n.223+15G>A | |
| XM_017018003.2:c.100+15G>A | XP_016873492.1:n.100+15G>A | |
| XM_017018004.1:c.100+15G>A | XP_016873493.1:n.100+15G>A | |
| XM_017018005.1:c.100+15G>A | XP_016873494.1:n.100+15G>A | |
| XM_017018006.2:c.100+15G>A | XP_016873495.1:n.100+15G>A | |
| NM_017547.4:c.733+15G>A MANE Select | NP_060017.1:n.733+15G>A | |
| NR_037647.2:n.565+15G>A | ||
| NR_037648.2:n.910+15G>A |