Linked Data
ClinVar Variation Id:
293736
dbSNP Id:
rs140406512
ExAC:
1:172629250 C / A
gnomAD v2:
1-172629250-C-A
gnomAD v3:
1-172660110-C-A
gnomAD v4:
1-172660110-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172660110C>A , CM000663.2:g.172660110C>A | GRCh38 |
| NC_000001.10:g.172629250C>A , CM000663.1:g.172629250C>A | GRCh37 |
| NC_000001.9:g.170895873C>A | NCBI36 |
| NG_007269.1:g.6066C>A , LRG_58:g.6066C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.364C>A MANE Select | ENSP00000356694.2:p.His122Asn | |
| ENST00000340030.4:c.348+561C>A | ENSP00000344739.3:n.348+561C>A | |
| ENST00000367721.2:c.364C>A | ENSP00000356694.2:p.His122Asn | |
| NM_000639.2:c.364C>A | NP_000630.1:p.His122Asn | |
| NM_001302746.1:c.348+561C>A | NP_001289675.1:n.348+561C>A | |
| NM_000639.3:c.364C>A MANE Select | NP_000630.1:p.His122Asn | |
| NM_001302746.2:c.348+561C>A | NP_001289675.1:n.348+561C>A |