Linked Data
ClinVar Variation Id:
98875
dbSNP Id:
rs61752884
ExAC:
1:68906635 G / A
gnomAD v2:
1-68906635-G-A
gnomAD v4:
1-68440952-G-A
ERepo:
CA226559/MONDO:0100368/120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68440952G>A , CM000663.2:g.68440952G>A | GRCh38 |
| NC_000001.10:g.68906635G>A , CM000663.1:g.68906635G>A | GRCh37 |
| NC_000001.9:g.68679223G>A | NCBI36 |
| NG_008472.1:g.14008C>T | |
| NG_008472.2:g.14008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.544C>T MANE Select | ENSP00000262340.5:p.His182Tyr | |
| ENST00000262340.5:c.544C>T | ENSP00000262340.5:p.His182Tyr | |
| NM_000329.2:c.544C>T | NP_000320.1:p.His182Tyr | |
| XM_017002027.1:c.268C>T | XP_016857516.1:p.His90Tyr | |
| NM_000329.3:c.544C>T MANE Select | NP_000320.1:p.His182Tyr |