Linked Data
ClinVar Variation Id:
942744
dbSNP Id:
rs761060634
ExAC:
8:65509374 C / T
gnomAD v2:
8-65509374-C-T
gnomAD v4:
8-64596817-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64596817C>T , CM000670.2:g.64596817C>T | GRCh38 |
| NC_000008.10:g.65509374C>T , CM000670.1:g.65509374C>T | GRCh37 |
| NC_000008.9:g.65671928C>T | NCBI36 |
| NG_008338.1:g.206975G>A | |
| NG_008338.2:g.206975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.1346G>A MANE Select | ENSP00000310721.3:p.Cys449Tyr | |
| ENST00000310193.3:c.1346G>A | ENSP00000310721.3:p.Cys449Tyr | |
| ENST00000523954.1:n.508-6973G>A | ||
| NM_004820.3:c.1346G>A | NP_004811.1:p.Cys449Tyr | |
| NM_001324112.1:c.1234-6973G>A | NP_001311041.1:n.1234-6973G>A | |
| NM_004820.4:c.1346G>A | NP_004811.1:p.Cys449Tyr | |
| XM_017014002.1:c.1412G>A | XP_016869491.1:p.Cys471Tyr | |
| NM_004820.5:c.1346G>A MANE Select | NP_004811.1:p.Cys449Tyr | |
| NM_001324112.2:c.1234-6973G>A | NP_001311041.1:n.1234-6973G>A |