Linked Data
ClinVar Variation Id:
2006911
ClinVar RCV Id:
RCV002837992
dbSNP Id:
rs1415733769
gnomAD v2:
1-161276713-T-C
gnomAD v3:
1-161306923-T-C
gnomAD v4:
1-161306923-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306923T>C , CM000663.2:g.161306923T>C | GRCh38 |
| NC_000001.10:g.161276713T>C , CM000663.1:g.161276713T>C | GRCh37 |
| NC_000001.9:g.159543337T>C | NCBI36 |
| NG_008055.1:g.8050A>G , LRG_256:g.8050A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.235-2A>G | ENSP00000488104.2:n.235-2A>G | |
| ENST00000533357.5:c.235-2A>G MANE Select | ENSP00000432943.1:n.235-2A>G | |
| ENST00000672287.2:c.-354-2A>G | ENSP00000499818.2:n.-354-2A>G | |
| ENST00000672602.2:c.235-2A>G | ENSP00000500814.2:n.235-2A>G | |
| ENST00000674861.1:n.298-2A>G | ||
| ENST00000463290.5:c.235-2A>G | ENSP00000431538.1:n.235-2A>G | |
| ENST00000491222.5:c.-354-2A>G | ENSP00000431441.1:n.-354-2A>G | |
| ENST00000533357.4:c.235-2A>G | ENSP00000432943.1:n.235-2A>G | |
| NM_000530.6:c.235-2A>G , LRG_256t1:c.235-2A>G | NP_000521.2:n.235-2A>G | |
| NM_000530.7:c.235-2A>G | NP_000521.2:n.235-2A>G | |
| NM_001315491.1:c.235-2A>G | NP_001302420.1:n.235-2A>G | |
| XM_017001321.2:c.265-2A>G | XP_016856810.1:n.265-2A>G | |
| NM_000530.8:c.235-2A>G MANE Select | NP_000521.2:n.235-2A>G | |
| NM_001315491.2:c.235-2A>G | NP_001302420.1:n.235-2A>G |