Linked Data
ClinVar Variation Id:
1417299
ClinVar RCV Id:
RCV001948109
dbSNP Id:
rs1411756701
gnomAD v2:
6-143780222-G-A
gnomAD v4:
6-143459085-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143459085G>A , CM000668.2:g.143459085G>A | GRCh38 |
| NC_000006.11:g.143780222G>A , CM000668.1:g.143780222G>A | GRCh37 |
| NC_000006.10:g.143821915G>A | NCBI36 |
| NG_008459.1:g.13305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.74G>A MANE Select | ENSP00000356563.4:p.Gly25Glu | |
| ENST00000367591.4:c.74G>A | ENSP00000356563.4:p.Gly25Glu | |
| ENST00000367592.5:c.74-3831G>A | ENSP00000356564.1:n.74-3831G>A | |
| NM_003630.2:c.74G>A | NP_003621.1:p.Gly25Glu | |
| NM_003630.3:c.74G>A MANE Select | NP_003621.1:p.Gly25Glu |