Linked Data
dbSNP Id:
rs752502827
ExAC:
11:66328062 G / A
gnomAD v2:
11-66328062-G-A
gnomAD v3:
11-66560591-G-A
gnomAD v4:
11-66560591-G-A
COSMIC:
COSN20088420
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560591G>A , CM000673.2:g.66560591G>A | GRCh38 |
| NC_000011.9:g.66328062G>A , CM000673.1:g.66328062G>A | GRCh37 |
| NC_000011.8:g.66084638G>A | NCBI36 |
| NG_013304.2:g.18672G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1696G>A MANE Select | ENSP00000426797.1:p.Asp566Asn | |
| ENST00000502692.5:c.1825G>A | ENSP00000422007.1:p.Asp609Asn | |
| ENST00000513398.1:c.1696G>A | ENSP00000426797.1:p.Asp566Asn | |
| NM_001104.3:c.1696G>A | NP_001095.2:p.Asp566Asn | |
| NM_001258371.2:c.1825G>A | NP_001245300.2:p.Asp609Asn | |
| NM_001104.4:c.1696G>A MANE Select | NP_001095.2:p.Asp566Asn | |
| NM_001258371.3:c.1825G>A | NP_001245300.2:p.Asp609Asn |