Linked Data
ClinVar Variation Id:
378005
dbSNP Id:
rs201909993
ExAC:
17:68172047 C / T
gnomAD v2:
17-68172047-C-T
gnomAD v3:
17-70175906-C-T
gnomAD v4:
17-70175906-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175906C>T , CM000679.2:g.70175906C>T | GRCh38 |
| NC_000017.10:g.68172047C>T , CM000679.1:g.68172047C>T | GRCh37 |
| NC_000017.9:g.65683642C>T | NCBI36 |
| NG_008798.1:g.11372C>T , LRG_328:g.11372C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.867C>T MANE Select | ENSP00000243457.2:p.Asn289= | |
| ENST00000243457.3:c.867C>T | ENSP00000243457.2:p.Asn289= | |
| ENST00000535240.1:c.867C>T | ENSP00000441848.1:p.Asn289= | |
| NM_000891.2:c.867C>T , LRG_328t1:c.867C>T | NP_000882.1:p.Asn289= | |
| XM_011524779.1:c.867C>T | XP_011523081.1:p.Asn289= | |
| NM_000891.3:c.867C>T MANE Select | NP_000882.1:p.Asn289= |