Linked Data
ClinVar Variation Id:
1108910
ClinVar RCV Id:
RCV001434573
dbSNP Id:
rs778951965
gnomAD v2:
20-47989772-G-C
gnomAD v3:
20-49373235-G-C
gnomAD v4:
20-49373235-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49373235G>C , CM000682.2:g.49373235G>C | GRCh38 |
| NC_000020.10:g.47989772G>C , CM000682.1:g.47989772G>C | GRCh37 |
| NC_000020.9:g.47423179G>C | NCBI36 |
| NG_041781.1:g.114410C>G | |
| NG_041781.2:g.114410C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371741.6:c.2325C>G MANE Select | ENSP00000360806.3:p.Pro775= | |
| ENST00000635878.1:c.97-73852C>G | ENSP00000489908.1:n.97-73852C>G | |
| ENST00000637341.1:n.206+41211G>C | ||
| ENST00000371741.5:c.2325C>G | ENSP00000360806.3:p.Pro775= | |
| ENST00000635465.1:c.2325C>G | ENSP00000489193.1:p.Pro775= | |
| NM_004975.2:c.2325C>G | NP_004966.1:p.Pro775= | |
| XM_006723784.2:c.2325C>G | XP_006723847.1:p.Pro775= | |
| XM_011528799.1:c.2325C>G | XP_011527101.1:p.Pro775= | |
| NM_004975.3:c.2325C>G | NP_004966.1:p.Pro775= | |
| XM_006723784.3:c.2325C>G | XP_006723847.1:p.Pro775= | |
| XM_011528799.2:c.2325C>G | XP_011527101.1:p.Pro775= | |
| XR_001754659.1:n.156+41211G>C | ||
| NM_004975.4:c.2325C>G MANE Select | NP_004966.1:p.Pro775= |