Linked Data
ClinVar Variation Id:
1750121
dbSNP Id:
rs144983213
ExAC:
17:68171765 C / T
gnomAD v2:
17-68171765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175624C>T , CM000679.2:g.70175624C>T | GRCh38 |
| NC_000017.10:g.68171765C>T , CM000679.1:g.68171765C>T | GRCh37 |
| NC_000017.9:g.65683360C>T | NCBI36 |
| NG_008798.1:g.11090C>T , LRG_328:g.11090C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.585C>T MANE Select | ENSP00000243457.2:p.Phe195= | |
| ENST00000243457.3:c.585C>T | ENSP00000243457.2:p.Phe195= | |
| ENST00000535240.1:c.585C>T | ENSP00000441848.1:p.Phe195= | |
| NM_000891.2:c.585C>T , LRG_328t1:c.585C>T | NP_000882.1:p.Phe195= | |
| XM_011524779.1:c.585C>T | XP_011523081.1:p.Phe195= | |
| NM_000891.3:c.585C>T MANE Select | NP_000882.1:p.Phe195= |