Linked Data
ClinVar Variation Id:
1024843
ClinVar RCV Id:
RCV001325076
dbSNP Id:
rs1175779934
gnomAD v2:
19-12776293-C-T
gnomAD v3:
19-12665479-C-T
gnomAD v4:
19-12665479-C-T
MyVariant Identifiers:
chr19:g.12776293C>T (hg19)
chr19:g.12776293_12776294delinsTG (hg19)
chr19:g.12665479C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665479C>T , CM000681.2:g.12665479C>T | GRCh38 |
| NC_000019.9:g.12776293C>T , CM000681.1:g.12776293C>T | GRCh37 |
| NC_000019.8:g.12637293C>T | NCBI36 |
| NG_008318.1:g.6299G>A | |
| NG_015814.1:g.3676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.309G>A MANE Select | ENSP00000395473.2:p.Ser103= | |
| ENST00000221363.8:c.309G>A | ENSP00000221363.4:p.Ser103= | |
| ENST00000456935.6:c.309G>A | ENSP00000395473.2:p.Ser103= | |
| ENST00000466794.5:n.291G>A | ||
| ENST00000486847.2:c.206G>A | ENSP00000470174.1:p.Arg69Gln | |
| ENST00000596512.5:n.247G>A | ||
| ENST00000597961.1:c.300G>A | ENSP00000472710.1:p.Ser100= | |
| ENST00000598876.1:c.336G>A | ENSP00000470533.1:p.Ser112= | |
| ENST00000600281.1:n.350G>A | ||
| NM_000528.3:c.309G>A | NP_000519.2:p.Ser103= | |
| NM_001173498.1:c.309G>A | NP_001166969.1:p.Ser103= | |
| XM_005259913.1:c.309G>A | XP_005259970.1:p.Ser103= | |
| XM_005259913.2:c.309G>A | XP_005259970.1:p.Ser103= | |
| XM_024451518.1:c.-710G>A | XP_024307286.1:n.-710G>A | |
| NM_000528.4:c.309G>A MANE Select | NP_000519.2:p.Ser103= | |
| NM_001173498.2:c.309G>A | NP_001166969.1:p.Ser103= |