Linked Data
ClinVar Variation Id:
2785149
ClinVar RCV Id:
RCV003662664
dbSNP Id:
rs146491847
gnomAD v3:
8-133095139-A-G
gnomAD v4:
8-133095139-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133095139A>G , CM000670.2:g.133095139A>G | GRCh38 |
| NC_000008.10:g.134107383A>G , CM000670.1:g.134107383A>G | GRCh37 |
| NC_000008.9:g.134176565A>G | NCBI36 |
| NG_015832.1:g.233179A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.7335A>G (TG) MANE Select | ENSP00000220616.4:p.Ser2445= | |
| ENST00000338087.10:c.-319+7414T>C (SLA) MANE Select | ENSP00000337548.5:n.-319+7414T>C | |
| ENST00000220616.8:c.7335A>G (TG) | ENSP00000220616.4:p.Ser2445= | |
| ENST00000338087.9:c.-319+7414T>C (SLA) | ENSP00000337548.5:n.-319+7414T>C | |
| ENST00000395352.7:c.11+7414T>C (SLA) | ENSP00000378759.3:n.11+7414T>C | |
| ENST00000517648.5:c.11+7414T>C (SLA) | ENSP00000428559.1:n.11+7414T>C | |
| ENST00000517932.1:n.61-5024T>C (SLA) | ||
| ENST00000518565.5:n.324+7414T>C (SLA) | ||
| ENST00000519178.5:c.2701A>G (TG) | ||
| ENST00000519341.5:c.-441-7299T>C (SLA) | ENSP00000429681.1:n.-441-7299T>C | |
| ENST00000519543.5:c.1734A>G (TG) | ENSP00000430430.1:p.Ser578= | |
| ENST00000519558.5:c.-468+7414T>C (SLA) | ENSP00000429143.1:n.-468+7414T>C | |
| ENST00000519747.5:c.-419+7414T>C (SLA) | ENSP00000428971.1:n.-419+7414T>C | |
| ENST00000521302.5:c.-388+7414T>C (SLA) | ENSP00000430184.1:n.-388+7414T>C | |
| ENST00000521823.5:n.76+7414T>C (SLA) | ||
| ENST00000522119.5:c.-41+7261T>C (SLA) | ENSP00000430596.1:n.-41+7261T>C | |
| ENST00000522946.5:n.143+7261T>C (SLA) | ||
| ENST00000522996.5:n.517A>G (TG) | ||
| ENST00000523610.5:c.-319+7261T>C (SLA) | ENSP00000428087.1:n.-319+7261T>C | |
| ENST00000523756.5:c.3990A>G (TG) | ||
| ENST00000524345.5:c.-264+7414T>C (SLA) | ENSP00000427928.1:n.-264+7414T>C | |
| NM_001045556.2:c.-319+7414T>C (SLA) | NP_001039021.1:n.-319+7414T>C | |
| NM_001045557.2:c.11+7414T>C (SLA) | NP_001039022.2:n.11+7414T>C | |
| NM_001282964.1:c.11+7414T>C (SLA) | NP_001269893.1:n.11+7414T>C | |
| NM_001282965.1:c.-264+7414T>C (SLA) | NP_001269894.1:n.-264+7414T>C | |
| NM_003235.4:c.7335A>G (TG) | NP_003226.4:p.Ser2445= | |
| XM_005251038.3:c.7143A>G (TG) | XP_005251095.1:p.Ser2381= | |
| XM_006716622.2:c.7272A>G (TG) | XP_006716685.1:p.Ser2424= | |
| XM_005251038.4:c.7143A>G (TG) | XP_005251095.1:p.Ser2381= | |
| XM_006716622.3:c.7272A>G (TG) | XP_006716685.1:p.Ser2424= | |
| XM_017013739.2:c.-542+7414T>C (SLA) | XP_016869228.1:n.-542+7414T>C | |
| XM_017013793.1:c.7269A>G (TG) | XP_016869282.1:p.Ser2423= | |
| XM_017013794.1:c.7335A>G (TG) | XP_016869283.1:p.Ser2445= | |
| XM_017013795.1:c.7164A>G (TG) | XP_016869284.1:p.Ser2388= | |
| XM_017013796.1:c.7116A>G (TG) | XP_016869285.1:p.Ser2372= | |
| XM_017013797.1:c.7074A>G (TG) | XP_016869286.1:p.Ser2358= | |
| NM_001045556.3:c.-319+7414T>C (SLA) MANE Select | NP_001039021.1:n.-319+7414T>C | |
| NM_003235.5:c.7335A>G (TG) MANE Select | NP_003226.4:p.Ser2445= | |
| NM_001045557.3:c.11+7414T>C (SLA) | NP_001039022.2:n.11+7414T>C | |
| NM_001282964.2:c.11+7414T>C (SLA) | NP_001269893.1:n.11+7414T>C | |
| NM_001282965.2:c.-264+7414T>C (SLA) | NP_001269894.1:n.-264+7414T>C |