Linked Data
dbSNP Id:
rs751136067
ExAC:
1:17720797 G / A
gnomAD v2:
1-17720797-G-A
gnomAD v3:
1-17394301-G-A
gnomAD v4:
1-17394301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17394301G>A , CM000663.2:g.17394301G>A | GRCh38 |
| NC_000001.10:g.17720797G>A , CM000663.1:g.17720797G>A | GRCh37 |
| NC_000001.9:g.17593384G>A | NCBI36 |
| NG_032943.1:g.27056G>A | |
| NG_032943.2:g.27056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1184G>A MANE Select | ENSP00000483125.1:p.Ser395Asn | |
| NM_207421.4:c.1184G>A MANE Select | NP_997304.3:p.Ser395Asn |