Linked Data
ClinVar Variation Id:
328269
ClinVar RCV Id:
RCV000343915
dbSNP Id:
rs767199154
ExAC:
19:12767855 C / A
gnomAD v2:
19-12767855-C-A
gnomAD v3:
19-12657041-C-A
gnomAD v4:
19-12657041-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12657041C>A , CM000681.2:g.12657041C>A | GRCh38 |
| NC_000019.9:g.12767855C>A , CM000681.1:g.12767855C>A | GRCh37 |
| NC_000019.8:g.12628855C>A | NCBI36 |
| NG_008318.1:g.14737G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.1435G>T MANE Select | ENSP00000395473.2:p.Ala479Ser | |
| ENST00000221363.8:c.1432G>T | ENSP00000221363.4:p.Ala478Ser | |
| ENST00000433513.5:n.41G>T | ||
| ENST00000456935.6:c.1435G>T | ENSP00000395473.2:p.Ala479Ser | |
| ENST00000466794.5:n.1334G>T | ||
| ENST00000495617.1:n.611G>T | ||
| ENST00000593686.1:c.45G>T | ||
| ENST00000595880.5:n.32G>T | ||
| NM_000528.3:c.1435G>T | NP_000519.2:p.Ala479Ser | |
| NM_001173498.1:c.1432G>T | NP_001166969.1:p.Ala478Ser | |
| XM_005259913.1:c.1438G>T | XP_005259970.1:p.Ala480Ser | |
| XM_011528017.1:c.334G>T | XP_011526319.1:p.Ala112Ser | |
| XM_005259913.2:c.1438G>T | XP_005259970.1:p.Ala480Ser | |
| XM_024451518.1:c.334G>T | XP_024307286.1:p.Ala112Ser | |
| NM_000528.4:c.1435G>T MANE Select | NP_000519.2:p.Ala479Ser | |
| NM_001173498.2:c.1432G>T | NP_001166969.1:p.Ala478Ser |