Linked Data
dbSNP Id:
rs765465942
ExAC:
5:110407676 G / A
gnomAD v2:
5-110407676-G-A
gnomAD v4:
5-111071978-G-A
COSMIC:
COSM1432089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071978G>A , CM000667.2:g.111071978G>A | GRCh38 |
| NC_000005.9:g.110407676G>A , CM000667.1:g.110407676G>A | GRCh37 |
| NC_000005.8:g.110435575G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.88G>A MANE Select | ENSP00000339804.3:p.Asp30Asn | |
| ENST00000344895.3:c.88G>A | ENSP00000339804.3:p.Asp30Asn | |
| ENST00000420978.6:c.88G>A | ENSP00000399099.2:p.Asp30Asn | |
| NM_033035.4:c.88G>A | NP_149024.1:p.Asp30Asn | |
| NR_045089.1:n.1492G>A | ||
| NM_033035.5:c.88G>A MANE Select | NP_149024.1:p.Asp30Asn | |
| NR_045089.2:n.1510G>A |