Linked Data
ClinVar Variation Id:
1945020
ClinVar RCV Id:
RCV002680704
dbSNP Id:
rs1755114499
gnomAD v3:
19-41342261-G-C
gnomAD v4:
19-41342261-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41342261G>C , CM000681.2:g.41342261G>C | GRCh38 |
| NC_000019.9:g.41848166G>C , CM000681.1:g.41848166G>C | GRCh37 |
| NC_000019.8:g.46540006G>C | NCBI36 |
| NG_013364.1:g.16666C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.635-14C>G MANE Select | ENSP00000221930.4:n.635-14C>G | |
| ENST00000600196.2:c.635-14C>G | ENSP00000504008.1:n.635-14C>G | |
| ENST00000677934.1:c.634+2486C>G | ENSP00000504769.1:n.634+2486C>G | |
| ENST00000221930.5:c.635-14C>G | ENSP00000221930.4:n.635-14C>G | |
| ENST00000597453.1:n.166-14C>G | ||
| ENST00000600196.1:n.95-14C>G | ||
| NM_000660.5:c.635-14C>G | NP_000651.3:n.635-14C>G | |
| XM_011527242.1:c.635-14C>G | XP_011525544.1:n.635-14C>G | |
| NM_000660.6:c.635-14C>G | NP_000651.3:n.635-14C>G | |
| XM_011527242.2:c.635-14C>G | XP_011525544.1:n.635-14C>G | |
| NM_000660.7:c.635-14C>G MANE Select | NP_000651.3:n.635-14C>G |