Linked Data
ClinVar Variation Id:
258498
dbSNP Id:
rs17223045
ExAC:
19:855587 C / T
gnomAD v2:
19-855587-C-T
gnomAD v3:
19-855587-C-T
gnomAD v4:
19-855587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.855587C>T , CM000681.2:g.855587C>T | GRCh38 |
| NC_000019.9:g.855587C>T , CM000681.1:g.855587C>T | GRCh37 |
| NC_000019.8:g.806587C>T | NCBI36 |
| NG_007274.1:g.923C>T , LRG_46:g.923C>T | |
| NG_009627.1:g.8297C>T , LRG_57:g.8297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.390C>T MANE Select | ENSP00000263621.1:p.Asn130= | |
| ENST00000263621.1:c.390C>T | ENSP00000263621.1:p.Asn130= | |
| ENST00000590230.5:c.390C>T | ENSP00000466090.1:p.Asn130= | |
| NM_001972.2:c.390C>T , LRG_57t1:c.390C>T | NP_001963.1:p.Asn130= | |
| XM_011527775.1:c.390C>T | XP_011526077.1:p.Asn130= | |
| XM_011527776.1:c.390C>T | XP_011526078.1:p.Asn130= | |
| NM_001972.3:c.390C>T | NP_001963.1:p.Asn130= | |
| NM_001972.4:c.390C>T MANE Select | NP_001963.1:p.Asn130= |