Linked Data
ClinVar Variation Id:
342303
ClinVar RCV Id:
RCV000407331
dbSNP Id:
rs886057674
gnomAD v2:
3-100944235-G-A
gnomAD v3:
3-101225391-G-A
gnomAD v4:
3-101225391-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101225391G>A , CM000665.2:g.101225391G>A | GRCh38 |
| NC_000003.11:g.100944235G>A , CM000665.1:g.100944235G>A | GRCh37 |
| NC_000003.10:g.102426925G>A | NCBI36 |
| NG_028284.1:g.100185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.*1578C>T MANE Select | ENSP00000193391.6:n.*1578C>T | |
| ENST00000193391.7:c.*1578C>T | ENSP00000193391.6:n.*1578C>T | |
| NM_016247.3:c.*1578C>T | NP_057331.2:n.*1578C>T | |
| XM_011512872.1:c.*1578C>T | XP_011511174.1:n.*1578C>T | |
| NM_016247.4:c.*1578C>T MANE Select | NP_057331.2:n.*1578C>T |