Linked Data
ClinVar Variation Id:
355583
ClinVar RCV Id:
RCV000288824
dbSNP Id:
rs140007169
gnomAD v2:
6-143810754-G-A
gnomAD v3:
6-143489617-G-A
gnomAD v4:
6-143489617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143489617G>A , CM000668.2:g.143489617G>A | GRCh38 |
| NC_000006.11:g.143810754G>A , CM000668.1:g.143810754G>A | GRCh37 |
| NC_000006.10:g.143852447G>A | NCBI36 |
| NG_008459.1:g.43837G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367591.5:c.*391G>A MANE Select | ENSP00000356563.4:n.*391G>A | |
| ENST00000367591.4:c.*391G>A | ENSP00000356563.4:n.*391G>A | |
| NM_003630.2:c.*391G>A | NP_003621.1:n.*391G>A | |
| NM_003630.3:c.*391G>A MANE Select | NP_003621.1:n.*391G>A |