Linked Data
ClinVar Variation Id:
1597995
ClinVar RCV Id:
RCV002120153
dbSNP Id:
rs2145221975
gnomAD v4:
19-12647578-G-A
MyVariant Identifiers:
chr19:g.12758392G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647578G>A , CM000681.2:g.12647578G>A | GRCh38 |
| NC_000019.9:g.12758392G>A , CM000681.1:g.12758392G>A | GRCh37 |
| NC_000019.8:g.12619392G>A | NCBI36 |
| NG_008318.1:g.24200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2685C>T MANE Select | ENSP00000395473.2:p.Asp895= | |
| ENST00000221363.8:c.2682C>T | ENSP00000221363.4:p.Asp894= | |
| ENST00000456935.6:c.2685C>T | ENSP00000395473.2:p.Asp895= | |
| ENST00000466794.5:n.3275C>T | ||
| ENST00000469423.1:n.7C>T | ||
| ENST00000493218.5:n.96C>T | ||
| ENST00000597692.1:c.244C>T | ||
| NM_000528.3:c.2685C>T | NP_000519.2:p.Asp895= | |
| NM_001173498.1:c.2682C>T | NP_001166969.1:p.Asp894= | |
| XM_005259913.1:c.2688C>T | XP_005259970.1:p.Asp896= | |
| XM_011528017.1:c.1584C>T | XP_011526319.1:p.Asp528= | |
| XM_005259913.2:c.2688C>T | XP_005259970.1:p.Asp896= | |
| XM_024451518.1:c.1584C>T | XP_024307286.1:p.Asp528= | |
| NM_000528.4:c.2685C>T MANE Select | NP_000519.2:p.Asp895= | |
| NM_001173498.2:c.2682C>T | NP_001166969.1:p.Asp894= |