Linked Data
ClinVar Variation Id:
1153393
ClinVar RCV Id:
RCV001495048
dbSNP Id:
rs1434923922
gnomAD v2:
19-12758398-G-T
gnomAD v4:
19-12647584-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647584G>T , CM000681.2:g.12647584G>T | GRCh38 |
| NC_000019.9:g.12758398G>T , CM000681.1:g.12758398G>T | GRCh37 |
| NC_000019.8:g.12619398G>T | NCBI36 |
| NG_008318.1:g.24194C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2679C>A MANE Select | ENSP00000395473.2:p.Arg893= | |
| ENST00000221363.8:c.2676C>A | ENSP00000221363.4:p.Arg892= | |
| ENST00000456935.6:c.2679C>A | ENSP00000395473.2:p.Arg893= | |
| ENST00000466794.5:n.3269C>A | ||
| ENST00000469423.1:n.1C>A | ||
| ENST00000493218.5:n.90C>A | ||
| ENST00000597692.1:c.238C>A | ||
| NM_000528.3:c.2679C>A | NP_000519.2:p.Arg893= | |
| NM_001173498.1:c.2676C>A | NP_001166969.1:p.Arg892= | |
| XM_005259913.1:c.2682C>A | XP_005259970.1:p.Arg894= | |
| XM_011528017.1:c.1578C>A | XP_011526319.1:p.Arg526= | |
| XM_005259913.2:c.2682C>A | XP_005259970.1:p.Arg894= | |
| XM_024451518.1:c.1578C>A | XP_024307286.1:p.Arg526= | |
| NM_000528.4:c.2679C>A MANE Select | NP_000519.2:p.Arg893= | |
| NM_001173498.2:c.2676C>A | NP_001166969.1:p.Arg892= |