Linked Data
ClinVar Variation Id:
328811
dbSNP Id:
rs886054336
gnomAD v2:
19-33904558-G-C
gnomAD v4:
19-33413652-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33413652G>C , CM000681.2:g.33413652G>C | GRCh38 |
| NC_000019.9:g.33904558G>C , CM000681.1:g.33904558G>C | GRCh37 |
| NC_000019.8:g.38596398G>C | NCBI36 |
| NG_013358.1:g.113242C>G | |
| NG_013358.2:g.113242C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.672-9C>G | ENSP00000468516.4:n.672-9C>G | |
| ENST00000651901.2:c.672-9C>G | ENSP00000498922.2:n.672-9C>G | |
| ENST00000698359.1:c.627-9C>G | ENSP00000513682.1:n.627-9C>G | |
| ENST00000698360.1:c.672-9C>G | ENSP00000513683.1:n.672-9C>G | |
| ENST00000698361.1:c.672-9C>G | ENSP00000513684.1:n.672-9C>G | |
| ENST00000698362.1:c.672-9C>G | ENSP00000513685.1:n.672-9C>G | |
| ENST00000698363.1:n.735-9C>G | ||
| ENST00000698364.1:n.735-9C>G | ||
| ENST00000698365.1:n.735-9C>G | ||
| ENST00000698426.1:c.351-9C>G | ENSP00000513713.1:n.351-9C>G | |
| ENST00000698427.1:c.714-9C>G | ENSP00000513714.1:n.714-9C>G | |
| ENST00000698428.1:c.351-9C>G | ENSP00000513715.1:n.351-9C>G | |
| ENST00000698429.1:n.555-9C>G | ||
| ENST00000698430.1:c.922-9C>G | ||
| ENST00000698431.1:c.409-9C>G | ENSP00000513717.1:n.409-9C>G | |
| ENST00000698432.1:c.481-9C>G | ||
| ENST00000698433.1:n.134-9C>G | ||
| ENST00000698434.1:n.159-9C>G | ||
| ENST00000698435.1:c.360-9C>G | ENSP00000513719.1:n.360-9C>G | |
| ENST00000698436.1:c.*284-9C>G | ENSP00000513720.1:n.*284-9C>G | |
| ENST00000244137.12:c.672-9C>G MANE Select | ENSP00000244137.5:n.672-9C>G | |
| ENST00000588328.6:c.661-9C>G | ||
| ENST00000590731.6:n.347-9C>G | ||
| ENST00000651901.1:c.668-9C>G | ||
| ENST00000244137.11:c.672-9C>G | ENSP00000244137.5:n.672-9C>G | |
| ENST00000397032.8:c.549-9C>G | ENSP00000380226.3:n.549-9C>G | |
| ENST00000436370.7:c.480-9C>G | ENSP00000391890.2:n.480-9C>G | |
| ENST00000588328.5:c.163-9C>G | ||
| ENST00000588719.5:n.307-9C>G | ||
| ENST00000590731.5:n.347-9C>G | ||
| ENST00000593163.5:n.837-9C>G | ||
| ENST00000609145.5:c.105-9C>G | ENSP00000476514.1:n.105-9C>G | |
| NM_000285.3:c.672-9C>G | NP_000276.2:n.672-9C>G | |
| NM_001166056.1:c.549-9C>G | NP_001159528.1:n.549-9C>G | |
| NM_001166057.1:c.480-9C>G | NP_001159529.1:n.480-9C>G | |
| NM_000285.4:c.672-9C>G MANE Select | NP_000276.2:n.672-9C>G | |
| NM_001166056.2:c.549-9C>G | NP_001159528.1:n.549-9C>G | |
| NM_001166057.2:c.480-9C>G | NP_001159529.1:n.480-9C>G |