Linked Data
ClinVar Variation Id:
1096849
ClinVar RCV Id:
RCV001418207
dbSNP Id:
rs2145254460
gnomAD v4:
19-12657033-C-T
MyVariant Identifiers:
chr19:g.12767847C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12657033C>T , CM000681.2:g.12657033C>T | GRCh38 |
| NC_000019.9:g.12767847C>T , CM000681.1:g.12767847C>T | GRCh37 |
| NC_000019.8:g.12628847C>T | NCBI36 |
| NG_008318.1:g.14745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1443G>A MANE Select | ENSP00000395473.2:p.Ala481= | |
| ENST00000221363.8:c.1440G>A | ENSP00000221363.4:p.Ala480= | |
| ENST00000433513.5:n.49G>A | ||
| ENST00000456935.6:c.1443G>A | ENSP00000395473.2:p.Ala481= | |
| ENST00000466794.5:n.1342G>A | ||
| ENST00000495617.1:n.619G>A | ||
| ENST00000593686.1:c.53G>A | ||
| ENST00000595880.5:n.40G>A | ||
| NM_000528.3:c.1443G>A | NP_000519.2:p.Ala481= | |
| NM_001173498.1:c.1440G>A | NP_001166969.1:p.Ala480= | |
| XM_005259913.1:c.1446G>A | XP_005259970.1:p.Ala482= | |
| XM_011528017.1:c.342G>A | XP_011526319.1:p.Ala114= | |
| XM_005259913.2:c.1446G>A | XP_005259970.1:p.Ala482= | |
| XM_024451518.1:c.342G>A | XP_024307286.1:p.Ala114= | |
| NM_000528.4:c.1443G>A MANE Select | NP_000519.2:p.Ala481= | |
| NM_001173498.2:c.1440G>A | NP_001166969.1:p.Ala480= |