Linked Data
ClinVar Variation Id:
225282
dbSNP Id:
rs116347156
ExAC:
1:201031133 C / T
gnomAD v2:
1-201031133-C-T
gnomAD v3:
1-201062005-C-T
gnomAD v4:
1-201062005-C-T
PubMed:
PMID:25637381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201062005C>T , CM000663.2:g.201062005C>T | GRCh38 |
| NC_000001.10:g.201031133C>T , CM000663.1:g.201031133C>T | GRCh37 |
| NC_000001.9:g.199297756C>T | NCBI36 |
| NG_009816.1:g.55562G>A | |
| NG_009816.2:g.55562G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.2992G>A MANE Select | ENSP00000355192.3:p.Asp998Asn | |
| ENST00000679417.1:c.*2155G>A | ENSP00000506706.1:n.*2155G>A | |
| ENST00000680051.1:n.118G>A | ||
| ENST00000680059.1:c.*510G>A | ENSP00000504944.1:n.*510G>A | |
| ENST00000681078.1:c.2992G>A | ENSP00000506645.1:p.Asp998Asn | |
| ENST00000681190.1:c.2992G>A | ENSP00000506428.1:p.Asp998Asn | |
| ENST00000681874.1:c.2932G>A | ENSP00000505162.1:p.Asp978Asn | |
| ENST00000362061.3:c.2992G>A | ENSP00000355192.3:p.Asp998Asn | |
| ENST00000367338.7:c.2992G>A | ENSP00000356307.3:p.Asp998Asn | |
| NM_000069.2:c.2992G>A | NP_000060.2:p.Asp998Asn | |
| XM_005245478.2:c.2992G>A | XP_005245535.1:p.Asp998Asn | |
| XM_005245478.3:c.2992G>A | XP_005245535.1:p.Asp998Asn | |
| NM_000069.3:c.2992G>A MANE Select | NP_000060.2:p.Asp998Asn |