Linked Data
ClinVar Variation Id:
320429
dbSNP Id:
rs373893426
ExAC:
16:72056308 C / A
gnomAD v2:
16-72056308-C-A
gnomAD v3:
16-72022409-C-A
gnomAD v4:
16-72022409-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72022409C>A , CM000678.2:g.72022409C>A | GRCh38 |
| NC_000016.9:g.72056308C>A , CM000678.1:g.72056308C>A | GRCh37 |
| NC_000016.8:g.70613809C>A | NCBI36 |
| NG_016271.1:g.18666C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.753C>A MANE Select | ENSP00000219240.4:p.Val251= | |
| ENST00000219240.8:c.753C>A | ENSP00000219240.4:p.Val251= | |
| ENST00000571392.1:n.1485-756C>A | ||
| ENST00000572887.5:c.753C>A | ENSP00000461848.1:p.Val251= | |
| ENST00000573922.5:n.314-756C>A | ||
| ENST00000574309.5:c.514-1736C>A | ||
| NM_001361.4:c.753C>A | NP_001352.2:p.Val251= | |
| XM_005255827.2:c.669C>A | XP_005255884.1:p.Val223= | |
| XM_005255828.3:c.345C>A | XP_005255885.1:p.Val115= | |
| XM_005255829.2:c.324C>A | XP_005255886.1:p.Val108= | |
| XM_005255827.4:c.669C>A | XP_005255884.1:p.Val223= | |
| XM_005255829.4:c.324C>A | XP_005255886.1:p.Val108= | |
| XM_017022990.2:c.426C>A | XP_016878479.1:p.Val142= | |
| NM_001361.5:c.753C>A MANE Select | NP_001352.2:p.Val251= |