Linked Data
ClinVar Variation Id:
3047158
ClinVar RCV Id:
RCV003947048
dbSNP Id:
rs775994224
gnomAD v2:
19-18710496-G-A
gnomAD v3:
19-18599686-G-A
gnomAD v4:
19-18599686-G-A
COSMIC:
COSM5056398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18599686G>A , CM000681.2:g.18599686G>A | GRCh38 |
| NC_000019.9:g.18710496G>A , CM000681.1:g.18710496G>A | GRCh37 |
| NC_000019.8:g.18571496G>A | NCBI36 |
| NG_013370.1:g.12165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.276C>T | ENSP00000506849.1:p.Asn92= | |
| ENST00000392386.8:c.276C>T MANE Select | ENSP00000376188.2:p.Asn92= | |
| ENST00000392386.7:c.276C>T | ENSP00000376188.2:p.Asn92= | |
| NM_004750.4:c.276C>T | NP_004741.1:p.Asn92= | |
| XM_011528422.1:c.210C>T | XP_011526724.1:p.Asn70= | |
| XM_011528423.1:c.276C>T | XP_011526725.1:p.Asn92= | |
| XM_011528424.1:c.210C>T | XP_011526726.1:p.Asn70= | |
| XM_011528422.2:c.210C>T | XP_011526724.1:p.Asn70= | |
| XM_011528423.2:c.276C>T | XP_011526725.1:p.Asn92= | |
| XM_011528424.3:c.210C>T | XP_011526726.1:p.Asn70= | |
| NM_004750.5:c.276C>T MANE Select | NP_004741.1:p.Asn92= |