Linked Data
ClinVar Variation Id:
342334
dbSNP Id:
rs139496326
ExAC:
3:100948296 G / A
gnomAD v2:
3-100948296-G-A
gnomAD v3:
3-101229452-G-A
gnomAD v4:
3-101229452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101229452G>A , CM000665.2:g.101229452G>A | GRCh38 |
| NC_000003.11:g.100948296G>A , CM000665.1:g.100948296G>A | GRCh37 |
| NC_000003.10:g.102430986G>A | NCBI36 |
| NG_028284.1:g.96124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.3561C>T MANE Select | ENSP00000193391.6:p.Ser1187= | |
| ENST00000193391.7:c.3561C>T | ENSP00000193391.6:p.Ser1187= | |
| NM_016247.3:c.3561C>T | NP_057331.2:p.Ser1187= | |
| XM_011512871.1:c.3267C>T | XP_011511173.1:p.Ser1089= | |
| XM_011512872.1:c.3150C>T | XP_011511174.1:p.Ser1050= | |
| NM_016247.4:c.3561C>T MANE Select | NP_057331.2:p.Ser1187= |