Linked Data
ClinVar Variation Id:
1601724
ClinVar RCV Id:
RCV002127462
dbSNP Id:
rs17618244
ExAC:
4:39448529 G / A
gnomAD v2:
4-39448529-G-A
gnomAD v3:
4-39446909-G-A
gnomAD v4:
4-39446909-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446909G>A , CM000666.2:g.39446909G>A | GRCh38 |
| NC_000004.11:g.39448529G>A , CM000666.1:g.39448529G>A | GRCh37 |
| NC_000004.10:g.39124924G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257408.5:c.2183G>A MANE Select | ENSP00000257408.4:p.Arg728Gln | |
| ENST00000257408.4:c.2183G>A | ENSP00000257408.4:p.Arg728Gln | |
| NM_175737.3:c.2183G>A | NP_783864.1:p.Arg728Gln | |
| XM_005262644.1:c.2156G>A | XP_005262701.1:p.Arg719Gln | |
| NM_175737.4:c.2183G>A MANE Select | NP_783864.1:p.Arg728Gln |