Linked Data
ClinVar Variation Id:
1131657
ClinVar RCV Id:
RCV001465600
dbSNP Id:
rs2145221961
gnomAD v4:
19-12647577-G-A
MyVariant Identifiers:
chr19:g.12758391G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647577G>A , CM000681.2:g.12647577G>A | GRCh38 |
| NC_000019.9:g.12758391G>A , CM000681.1:g.12758391G>A | GRCh37 |
| NC_000019.8:g.12619391G>A | NCBI36 |
| NG_008318.1:g.24201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2686C>T MANE Select | ENSP00000395473.2:p.Leu896= | |
| ENST00000221363.8:c.2683C>T | ENSP00000221363.4:p.Leu895= | |
| ENST00000456935.6:c.2686C>T | ENSP00000395473.2:p.Leu896= | |
| ENST00000466794.5:n.3276C>T | ||
| ENST00000469423.1:n.8C>T | ||
| ENST00000493218.5:n.97C>T | ||
| ENST00000597692.1:c.245C>T | ||
| NM_000528.3:c.2686C>T | NP_000519.2:p.Leu896= | |
| NM_001173498.1:c.2683C>T | NP_001166969.1:p.Leu895= | |
| XM_005259913.1:c.2689C>T | XP_005259970.1:p.Leu897= | |
| XM_011528017.1:c.1585C>T | XP_011526319.1:p.Leu529= | |
| XM_005259913.2:c.2689C>T | XP_005259970.1:p.Leu897= | |
| XM_024451518.1:c.1585C>T | XP_024307286.1:p.Leu529= | |
| NM_000528.4:c.2686C>T MANE Select | NP_000519.2:p.Leu896= | |
| NM_001173498.2:c.2683C>T | NP_001166969.1:p.Leu895= |