Linked Data
ClinVar Variation Id:
1121608
ClinVar RCV Id:
RCV001451915
dbSNP Id:
rs1410171749
gnomAD v4:
20-49373220-C-T
MyVariant Identifiers:
chr20:g.47989757C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49373220C>T , CM000682.2:g.49373220C>T | GRCh38 |
| NC_000020.10:g.47989757C>T , CM000682.1:g.47989757C>T | GRCh37 |
| NC_000020.9:g.47423164C>T | NCBI36 |
| NG_041781.1:g.114425G>A | |
| NG_041781.2:g.114425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371741.6:c.2340G>A MANE Select | ENSP00000360806.3:p.Gly780= | |
| ENST00000635878.1:c.97-73837G>A | ENSP00000489908.1:n.97-73837G>A | |
| ENST00000637341.1:n.206+41196C>T | ||
| ENST00000371741.5:c.2340G>A | ENSP00000360806.3:p.Gly780= | |
| ENST00000635465.1:c.2340G>A | ENSP00000489193.1:p.Gly780= | |
| NM_004975.2:c.2340G>A | NP_004966.1:p.Gly780= | |
| XM_006723784.2:c.2340G>A | XP_006723847.1:p.Gly780= | |
| XM_011528799.1:c.2340G>A | XP_011527101.1:p.Gly780= | |
| NM_004975.3:c.2340G>A | NP_004966.1:p.Gly780= | |
| XM_006723784.3:c.2340G>A | XP_006723847.1:p.Gly780= | |
| XM_011528799.2:c.2340G>A | XP_011527101.1:p.Gly780= | |
| XR_001754659.1:n.156+41196C>T | ||
| NM_004975.4:c.2340G>A MANE Select | NP_004966.1:p.Gly780= |