Linked Data
dbSNP Id:
rs1762730742
gnomAD v3:
6-32443259-G-A
gnomAD v4:
6-32443259-G-A
COSMIC:
COSM213866
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443259G>A , CM000668.2:g.32443259G>A | GRCh38 |
| NC_000006.11:g.32411036G>A , CM000668.1:g.32411036G>A | GRCh37 |
| NC_000006.10:g.32519014G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.403G>A MANE Select | ENSP00000378786.2:p.Asp135Asn | |
| ENST00000374982.5:c.329-1G>A | ENSP00000364121.5:n.329-1G>A | |
| ENST00000395388.6:c.403G>A | ENSP00000378786.2:p.Asp135Asn | |
| NM_019111.4:c.403G>A | NP_061984.2:p.Asp135Asn | |
| NM_019111.5:c.403G>A MANE Select | NP_061984.2:p.Asp135Asn |