Linked Data
ClinVar Variation Id:
261067
dbSNP Id:
rs1012729
ExAC:
12:987482 G / A
gnomAD v2:
12-987482-G-A
gnomAD v3:
12-878316-G-A
gnomAD v4:
12-878316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.878316G>A , CM000674.2:g.878316G>A | GRCh38 |
| NC_000012.11:g.987482G>A , CM000674.1:g.987482G>A | GRCh37 |
| NC_000012.10:g.857743G>A | NCBI36 |
| NG_007984.2:g.130258G>A | |
| NG_007984.3:g.130258G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000315939.11:c.2328G>A MANE Select | ENSP00000313059.6:p.Gln776= | |
| ENST00000340908.9:c.3822G>A MANE Plus Clinical | ENSP00000341292.5:p.Gln1274= | |
| ENST00000674810.1:n.2925G>A | ||
| ENST00000675236.1:n.1223G>A | ||
| ENST00000675631.1:c.1107G>A | ENSP00000502415.1:p.Gln369= | |
| ENST00000676347.1:c.513G>A | ENSP00000501875.1:p.Gln171= | |
| ENST00000315939.10:c.2328G>A | ENSP00000313059.6:p.Gln776= | |
| ENST00000340908.8:c.3822G>A | ENSP00000341292.5:p.Gln1274= | |
| ENST00000530271.6:c.3567G>A | ENSP00000433548.3:p.Gln1189= | |
| ENST00000535572.5:c.2325G>A | ENSP00000441972.1:p.Gln775= | |
| ENST00000535698.1:c.138G>A | ENSP00000439552.1:p.Gln46= | |
| ENST00000537687.5:c.3567G>A | ENSP00000444465.1:p.Gln1189= | |
| ENST00000542543.1:n.302G>A | ||
| ENST00000544965.5:c.295G>A | ||
| ENST00000545285.5:c.286G>A | ||
| NM_001184985.1:c.3567G>A | NP_001171914.1:p.Gln1189= | |
| NM_014823.2:c.2325G>A | NP_055638.2:p.Gln775= | |
| NM_018979.3:c.2328G>A | NP_061852.3:p.Gln776= | |
| NM_213655.4:c.3822G>A | NP_998820.3:p.Gln1274= | |
| XM_006719003.1:c.2325G>A | XP_006719066.1:p.Gln775= | |
| XM_011520997.1:c.3567G>A | XP_011519299.1:p.Gln1189= | |
| XM_011520998.1:c.3564G>A | XP_011519300.1:p.Gln1188= | |
| XM_011520999.1:c.3567G>A | XP_011519301.1:p.Gln1189= | |
| XM_011521000.1:c.3567G>A | XP_011519302.1:p.Gln1189= | |
| XM_011521001.1:c.3567G>A | XP_011519303.1:p.Gln1189= | |
| XM_011521002.1:c.3564G>A | XP_011519304.1:p.Gln1188= | |
| XM_011521003.1:c.3567G>A | XP_011519305.1:p.Gln1189= | |
| XM_011521004.1:c.3564G>A | XP_011519306.1:p.Gln1188= | |
| XM_011521005.1:c.2346G>A | XP_011519307.1:p.Gln782= | |
| XM_011521006.1:c.2244G>A | XP_011519308.1:p.Gln748= | |
| XM_011521007.1:c.2241G>A | XP_011519309.1:p.Gln747= | |
| XM_011521008.1:c.2244G>A | XP_011519310.1:p.Gln748= | |
| XM_011521009.1:c.2241G>A | XP_011519311.1:p.Gln747= | |
| XM_006719003.2:c.2325G>A | XP_006719066.1:p.Gln775= | |
| XM_011520997.3:c.3567G>A | XP_011519299.1:p.Gln1189= | |
| XM_011520998.2:c.3564G>A | XP_011519300.1:p.Gln1188= | |
| XM_011520999.2:c.3567G>A | XP_011519301.1:p.Gln1189= | |
| XM_011521000.2:c.3567G>A | XP_011519302.1:p.Gln1189= | |
| XM_011521001.2:c.3567G>A | XP_011519303.1:p.Gln1189= | |
| XM_011521002.2:c.3564G>A | XP_011519304.1:p.Gln1188= | |
| XM_011521003.2:c.3567G>A | XP_011519305.1:p.Gln1189= | |
| XM_011521004.2:c.3564G>A | XP_011519306.1:p.Gln1188= | |
| XM_011521005.2:c.2346G>A | XP_011519307.1:p.Gln782= | |
| XM_011521006.2:c.2244G>A | XP_011519308.1:p.Gln748= | |
| XM_011521007.2:c.2241G>A | XP_011519309.1:p.Gln747= | |
| XM_011521008.2:c.2244G>A | XP_011519310.1:p.Gln748= | |
| XM_011521009.2:c.2241G>A | XP_011519311.1:p.Gln747= | |
| XM_017019834.1:c.2325G>A | XP_016875323.1:p.Gln775= | |
| XM_017019835.1:c.2244G>A | XP_016875324.1:p.Gln748= | |
| XM_017019836.1:c.2241G>A | XP_016875325.1:p.Gln747= | |
| XM_017019837.1:c.2328G>A | XP_016875326.1:p.Gln776= | |
| XM_017019838.1:c.2325G>A | XP_016875327.1:p.Gln775= | |
| XM_017019839.1:c.2244G>A | XP_016875328.1:p.Gln748= | |
| NM_018979.4:c.2328G>A MANE Select | NP_061852.3:p.Gln776= | |
| NM_014823.3:c.2325G>A | NP_055638.2:p.Gln775= | |
| NM_001184985.2:c.3567G>A | NP_001171914.1:p.Gln1189= | |
| NM_213655.5:c.3822G>A MANE Plus Clinical | NP_998820.3:p.Gln1274= |