Linked Data
dbSNP Id:
rs370803989
ExAC:
10:96540336 G / A
gnomAD v2:
10-96540336-G-A
gnomAD v3:
10-94780579-G-A
gnomAD v4:
10-94780579-G-A
COSMIC:
COSM921735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780579G>A , CM000672.2:g.94780579G>A | GRCh38 |
| NC_000010.10:g.96540336G>A , CM000672.1:g.96540336G>A | GRCh37 |
| NC_000010.9:g.96530326G>A | NCBI36 |
| NG_008384.2:g.22874G>A | |
| NG_008384.3:g.22899G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.562G>A MANE Select | ENSP00000360372.3:p.Asp188Asn | |
| ENST00000645461.1:n.1615G>A | ||
| ENST00000371321.7:c.562G>A | ENSP00000360372.3:p.Asp188Asn | |
| ENST00000464755.1:c.1325G>A | ENSP00000483243.1:n.1325G>A | |
| NM_000769.2:c.562G>A | NP_000760.1:p.Asp188Asn | |
| NM_000769.4:c.562G>A MANE Select | NP_000760.1:p.Asp188Asn |