Linked Data
ClinVar Variation Id:
2956777
ClinVar RCV Id:
RCV003816488
dbSNP Id:
rs774675353
ExAC:
9:130698814 G / C
gnomAD v2:
9-130698814-G-C
gnomAD v3:
9-127936535-G-C
gnomAD v4:
9-127936535-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127936535G>C , CM000671.2:g.127936535G>C | GRCh38 |
| NC_000009.11:g.130698814G>C , CM000671.1:g.130698814G>C | GRCh37 |
| NC_000009.10:g.129738635G>C | NCBI36 |
| NG_032927.1:g.6950C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314392.13:c.196+18C>G MANE Select | ENSP00000322181.8:n.196+18C>G | |
| ENST00000314392.12:c.196+18C>G | ENSP00000322181.8:n.196+18C>G | |
| ENST00000373110.4:c.214C>G | ENSP00000362202.4:p.Pro72Ala | |
| ENST00000470181.1:n.488+18C>G | ||
| ENST00000473360.1:n.347-755C>G | ||
| ENST00000495270.1:n.980+18C>G | ||
| NM_003863.3:c.196+18C>G | NP_003854.1:n.196+18C>G | |
| NM_003863.4:c.196+18C>G MANE Select | NP_003854.1:n.196+18C>G | |
| NM_001378437.1:c.106+18C>G | NP_001365366.1:n.106+18C>G | |
| NR_165631.1:n.353+18C>G | ||
| NR_165632.1:n.38-755C>G |