Linked Data
ClinVar Variation Id:
342280
ClinVar RCV Id:
RCV000391557
dbSNP Id:
rs886057667
gnomAD v2:
3-100942194-G-A
gnomAD v3:
3-101223350-G-A
gnomAD v4:
3-101223350-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101223350G>A , CM000665.2:g.101223350G>A | GRCh38 |
| NC_000003.11:g.100942194G>A , CM000665.1:g.100942194G>A | GRCh37 |
| NC_000003.10:g.102424884G>A | NCBI36 |
| NG_028284.1:g.102226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.*3619C>T MANE Select | ENSP00000193391.6:n.*3619C>T | |
| ENST00000193391.7:c.*3619C>T | ENSP00000193391.6:n.*3619C>T | |
| NM_016247.3:c.*3619C>T | NP_057331.2:n.*3619C>T | |
| XM_011512872.1:c.*3619C>T | XP_011511174.1:n.*3619C>T | |
| NM_016247.4:c.*3619C>T MANE Select | NP_057331.2:n.*3619C>T |