Linked Data
dbSNP Id:
rs17101017
gnomAD v2:
10-84646112-C-A
gnomAD v3:
10-82886356-C-A
gnomAD v4:
10-82886356-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.82886356C>A , CM000672.2:g.82886356C>A | GRCh38 |
| NC_000010.10:g.84646112C>A , CM000672.1:g.84646112C>A | GRCh37 |
| NC_000010.9:g.84636092C>A | NCBI36 |
| NG_013373.1:g.1016043C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372141.7:c.1054+20919C>A MANE Select | ENSP00000361214.2:n.1054+20919C>A | |
| ENST00000372141.6:c.1054+20919C>A | ENSP00000361214.2:n.1054+20919C>A | |
| ENST00000372142.6:c.391+20919C>A | ENSP00000361215.2:n.391+20919C>A | |
| ENST00000404547.5:c.1054+20919C>A | ENSP00000384796.1:n.1054+20919C>A | |
| ENST00000404576.6:c.466+20919C>A | ENSP00000385804.2:n.466+20919C>A | |
| ENST00000537893.1:c.4+20919C>A | ENSP00000440377.1:n.4+20919C>A | |
| ENST00000545131.5:c.4+20919C>A | ENSP00000441201.1:n.4+20919C>A | |
| ENST00000555784.5:c.454+20919C>A | ENSP00000451858.1:n.454+20919C>A | |
| ENST00000556918.5:c.544+20919C>A | ENSP00000451376.1:n.544+20919C>A | |
| ENST00000602794.5:c.*690+20919C>A | ENSP00000473669.1:n.*690+20919C>A | |
| NM_001010848.3:c.1054+20919C>A | NP_001010848.2:n.1054+20919C>A | |
| NM_001165972.1:c.1051+20919C>A | NP_001159444.1:n.1051+20919C>A | |
| NM_001165973.1:c.391+20919C>A | NP_001159445.1:n.391+20919C>A | |
| XM_005269444.3:c.1054+20919C>A | XP_005269501.1:n.1054+20919C>A | |
| XM_011539172.1:c.1054+20919C>A | XP_011537474.1:n.1054+20919C>A | |
| XM_011539173.1:c.1051+20919C>A | XP_011537475.1:n.1051+20919C>A | |
| XM_011539174.1:c.1028-65113C>A | XP_011537476.1:n.1028-65113C>A | |
| XM_011539175.1:c.1054+20919C>A | XP_011537477.1:n.1054+20919C>A | |
| XM_011539176.1:c.274+20919C>A | XP_011537478.1:n.274+20919C>A | |
| XM_011539177.1:c.274+20919C>A | XP_011537479.1:n.274+20919C>A | |
| XM_011539179.1:c.4+20919C>A | XP_011537481.1:n.4+20919C>A | |
| XM_005269444.5:c.1054+20919C>A | XP_005269501.1:n.1054+20919C>A | |
| XM_011539172.3:c.1054+20919C>A | XP_011537474.1:n.1054+20919C>A | |
| XM_011539173.3:c.1051+20919C>A | XP_011537475.1:n.1051+20919C>A | |
| XM_011539175.3:c.1054+20919C>A | XP_011537477.1:n.1054+20919C>A | |
| XM_017015573.2:c.1132+20919C>A | XP_016871062.1:n.1132+20919C>A | |
| XM_017015574.2:c.1132+20919C>A | XP_016871063.1:n.1132+20919C>A | |
| XM_017015575.2:c.1129+20919C>A | XP_016871064.1:n.1129+20919C>A | |
| XM_017015576.2:c.1129+20919C>A | XP_016871065.1:n.1129+20919C>A | |
| XM_017015577.2:c.1132+20919C>A | XP_016871066.1:n.1132+20919C>A | |
| XM_017015578.2:c.1132+20919C>A | XP_016871067.1:n.1132+20919C>A | |
| XM_017015579.2:c.1129+20919C>A | XP_016871068.1:n.1129+20919C>A | |
| XM_017015580.2:c.1129+20919C>A | XP_016871069.1:n.1129+20919C>A | |
| XM_017015581.2:c.1051+20919C>A | XP_016871070.1:n.1051+20919C>A | |
| XM_017015582.1:c.274+20919C>A | XP_016871071.1:n.274+20919C>A | |
| XM_017015583.1:c.274+20919C>A | XP_016871072.1:n.274+20919C>A | |
| XM_024447781.1:c.4+20919C>A | XP_024303549.1:n.4+20919C>A | |
| XR_001747009.2:n.1283+20919C>A | ||
| NM_001010848.4:c.1054+20919C>A MANE Select | NP_001010848.2:n.1054+20919C>A | |
| NM_001370081.1:c.1051+20919C>A | NP_001357010.1:n.1051+20919C>A | |
| NM_001370082.1:c.487+20919C>A | NP_001357011.1:n.487+20919C>A | |
| NM_001370084.1:c.1054+20919C>A | NP_001357013.1:n.1054+20919C>A | |
| NR_163251.1:n.1402+20919C>A | ||
| NR_163252.1:n.637+20919C>A | ||
| NR_163253.1:n.1129+20919C>A | ||
| NM_001165973.2:c.391+20919C>A | NP_001159445.1:n.391+20919C>A |