Linked Data
ClinVar Variation Id:
355582
ClinVar RCV Id:
RCV000380691
dbSNP Id:
rs223234
gnomAD v2:
6-143810682-A-T
gnomAD v3:
6-143489545-A-T
gnomAD v4:
6-143489545-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143489545A>T , CM000668.2:g.143489545A>T | GRCh38 |
| NC_000006.11:g.143810682A>T , CM000668.1:g.143810682A>T | GRCh37 |
| NC_000006.10:g.143852375A>T | NCBI36 |
| NG_008459.1:g.43765A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.*319A>T MANE Select | ENSP00000356563.4:n.*319A>T | |
| ENST00000367591.4:c.*319A>T | ENSP00000356563.4:n.*319A>T | |
| NM_003630.2:c.*319A>T | NP_003621.1:n.*319A>T | |
| NM_003630.3:c.*319A>T MANE Select | NP_003621.1:n.*319A>T |