Linked Data
ClinVar Variation Id:
1701801
ClinVar RCV Id:
RCV002275699
dbSNP Id:
rs893482697
gnomAD v4:
2-142954808-A-G
MutSpliceDB:
CA57515842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.142954808A>G , CM000664.2:g.142954808A>G | GRCh38 |
| NC_000002.11:g.143712377A>G , CM000664.1:g.143712377A>G | GRCh37 |
| NC_000002.10:g.143428847A>G | NCBI36 |
| NG_023254.1:g.82183A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264170.9:c.374-2A>G MANE Select | ENSP00000264170.4:n.374-2A>G | |
| ENST00000264170.8:c.374-2A>G | ENSP00000264170.4:n.374-2A>G | |
| ENST00000375773.6:c.374-2A>G | ENSP00000364928.2:n.374-2A>G | |
| ENST00000409512.5:c.374-2A>G | ENSP00000386731.1:n.374-2A>G | |
| ENST00000424385.5:c.*68-2A>G | ENSP00000401190.1:n.*68-2A>G | |
| ENST00000460143.1:n.135-2A>G | ||
| ENST00000612147.4:c.135-2A>G | ||
| ENST00000613664.1:c.84-2A>G | ||
| ENST00000621320.4:c.347-2A>G | ENSP00000484801.1:n.347-2A>G | |
| NM_001032998.1:c.374-2A>G | NP_001028170.1:n.374-2A>G | |
| NM_001199241.1:c.374-2A>G | NP_001186170.1:n.374-2A>G | |
| NM_003937.2:c.374-2A>G | NP_003928.1:n.374-2A>G | |
| XM_011512101.1:c.374-2A>G | XP_011510403.1:n.374-2A>G | |
| XM_011512102.1:c.-26-2A>G | XP_011510404.1:n.-26-2A>G | |
| XM_011512103.1:c.-26-2A>G | XP_011510405.1:n.-26-2A>G | |
| XM_011512104.1:c.-26-2A>G | XP_011510406.1:n.-26-2A>G | |
| XM_011512105.1:c.-26-2A>G | XP_011510407.1:n.-26-2A>G | |
| XR_923058.1:n.466-2A>G | ||
| XM_011512102.2:c.-26-2A>G | XP_011510404.1:n.-26-2A>G | |
| XM_017005217.1:c.374-2A>G | XP_016860706.1:n.374-2A>G | |
| XM_024453208.1:c.374-2A>G | XP_024308976.1:n.374-2A>G | |
| NM_003937.3:c.374-2A>G MANE Select | NP_003928.1:n.374-2A>G | |
| NM_001032998.2:c.374-2A>G | NP_001028170.1:n.374-2A>G | |
| NM_001199241.2:c.374-2A>G | NP_001186170.1:n.374-2A>G |