Linked Data
ClinVar Variation Id:
348828
ClinVar RCV Id:
RCV000395649
dbSNP Id:
rs564643132
gnomAD v2:
4-43032646-G-A
gnomAD v3:
4-43030629-G-A
gnomAD v4:
4-43030629-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43030629G>A , CM000666.2:g.43030629G>A | GRCh38 |
| NC_000004.11:g.43032646G>A , CM000666.1:g.43032646G>A | GRCh37 |
| NC_000004.10:g.42727403G>A | NCBI36 |
| NG_027718.1:g.142364G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399770.3:c.*89G>A MANE Select | ENSP00000382670.2:n.*89G>A | |
| ENST00000399770.2:c.962G>A | ENSP00000382670.2:n.962G>A | |
| NM_001080476.2:c.*89G>A | NP_001073945.1:n.*89G>A | |
| XM_011513691.1:c.*89G>A | XP_011511993.1:n.*89G>A | |
| NM_001080476.3:c.*89G>A MANE Select | NP_001073945.1:n.*89G>A |