Linked Data
ClinVar Variation Id:
335297
dbSNP Id:
rs886055840
gnomAD v2:
2-241813400-G-A
gnomAD v3:
2-240873983-G-A
gnomAD v4:
2-240873983-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873983G>A , CM000664.2:g.240873983G>A | GRCh38 |
| NC_000002.11:g.241813400G>A , CM000664.1:g.241813400G>A | GRCh37 |
| NC_000002.10:g.241462073G>A | NCBI36 |
| NG_008005.1:g.10239G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.601G>A MANE Select | ENSP00000302620.3:p.Asp201Asn | |
| ENST00000307503.3:c.601G>A | ENSP00000302620.3:p.Asp201Asn | |
| ENST00000476698.1:n.332+934G>A | ||
| NM_000030.2:c.601G>A | NP_000021.1:p.Asp201Asn | |
| NM_000030.3:c.601G>A MANE Select | NP_000021.1:p.Asp201Asn |