Linked Data
ClinVar Variation Id:
93210
dbSNP Id:
rs34544747
ExAC:
19:12767849 C / A
gnomAD v2:
19-12767849-C-A
gnomAD v3:
19-12657035-C-A
gnomAD v4:
19-12657035-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12657035C>A , CM000681.2:g.12657035C>A | GRCh38 |
| NC_000019.9:g.12767849C>A , CM000681.1:g.12767849C>A | GRCh37 |
| NC_000019.8:g.12628849C>A | NCBI36 |
| NG_008318.1:g.14743G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1441G>T MANE Select | ENSP00000395473.2:p.Ala481Ser | |
| ENST00000221363.8:c.1438G>T | ENSP00000221363.4:p.Ala480Ser | |
| ENST00000433513.5:n.47G>T | ||
| ENST00000456935.6:c.1441G>T | ENSP00000395473.2:p.Ala481Ser | |
| ENST00000466794.5:n.1340G>T | ||
| ENST00000495617.1:n.617G>T | ||
| ENST00000593686.1:c.51G>T | ||
| ENST00000595880.5:n.38G>T | ||
| NM_000528.3:c.1441G>T | NP_000519.2:p.Ala481Ser | |
| NM_001173498.1:c.1438G>T | NP_001166969.1:p.Ala480Ser | |
| XM_005259913.1:c.1444G>T | XP_005259970.1:p.Ala482Ser | |
| XM_011528017.1:c.340G>T | XP_011526319.1:p.Ala114Ser | |
| XM_005259913.2:c.1444G>T | XP_005259970.1:p.Ala482Ser | |
| XM_024451518.1:c.340G>T | XP_024307286.1:p.Ala114Ser | |
| NM_000528.4:c.1441G>T MANE Select | NP_000519.2:p.Ala481Ser | |
| NM_001173498.2:c.1438G>T | NP_001166969.1:p.Ala480Ser |