Linked Data
dbSNP Id:
rs780235352
ExAC:
11:118183443 G / A
gnomAD v2:
11-118183443-G-A
gnomAD v4:
11-118312728-G-A
COSMIC:
COSM1247705
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312728G>A , CM000673.2:g.118312728G>A | GRCh38 |
| NC_000011.9:g.118183443G>A , CM000673.1:g.118183443G>A | GRCh37 |
| NC_000011.8:g.117688653G>A | NCBI36 |
| NG_007383.1:g.13149G>A , LRG_38:g.13149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.214G>A MANE Select | ENSP00000354566.4:p.Asp72Asn | |
| ENST00000361763.8:c.214G>A | ENSP00000354566.4:p.Asp72Asn | |
| ENST00000526146.5:n.760G>A | ||
| ENST00000528435.5:n.767G>A | ||
| ENST00000528600.1:c.196G>A | ENSP00000433975.1:p.Asp66Asn | |
| ENST00000529713.5:n.320G>A | ||
| ENST00000531913.1:n.585G>A | ||
| NM_000733.3:c.214G>A , LRG_38t1:c.214G>A | NP_000724.1:p.Asp72Asn | |
| NM_000733.4:c.214G>A MANE Select | NP_000724.1:p.Asp72Asn |