Linked Data
ClinVar Variation Id:
522744
ClinVar RCV Id:
RCV000625902
dbSNP Id:
rs1554709677
gnomAD v4:
8-85464102-C-A
COSMIC:
COSM5686273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85464102C>A , CM000670.2:g.85464102C>A | GRCh38 |
| NC_000008.10:g.86376331C>A , CM000670.1:g.86376331C>A | GRCh37 |
| NC_000008.9:g.86563583C>A | NCBI36 |
| NG_007287.1:g.5086C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285379.10:c.21C>A (CA2) MANE Select | ENSP00000285379.4:p.Tyr7Ter | |
| ENST00000285379.9:c.21C>A (CA2) | ENSP00000285379.4:p.Tyr7Ter | |
| ENST00000518231.1:n.92C>A (CA2) | ||
| ENST00000520127.5:c.21C>A (CA2) | ENSP00000428443.1:p.Tyr7Ter | |
| ENST00000520996.5:n.100C>A (CA2) | ||
| ENST00000522742.1:c.21C>A (CA2) | ENSP00000428947.1:p.Tyr7Ter | |
| NM_000067.2:c.21C>A (CA2) | NP_000058.1:p.Tyr7Ter | |
| NM_001293675.1:c.-164C>A (CA2) | NP_001280604.1:n.-164C>A | |
| NR_121630.1:n.334+480G>T (CA3-AS1) | ||
| NR_121631.1:n.106+126G>T (CA3-AS1) | ||
| NM_000067.3:c.21C>A (CA2) MANE Select | NP_000058.1:p.Tyr7Ter | |
| NM_001293675.2:c.-164C>A (CA2) | NP_001280604.1:n.-164C>A |