Linked Data
ClinVar Variation Id:
3060182
ClinVar RCV Id:
RCV003982211
dbSNP Id:
rs1041983
ExAC:
8:18257795 C / T
gnomAD v2:
8-18257795-C-T
gnomAD v3:
8-18400285-C-T
gnomAD v4:
8-18400285-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400285C>T , CM000670.2:g.18400285C>T | GRCh38 |
| NC_000008.10:g.18257795C>T , CM000670.1:g.18257795C>T | GRCh37 |
| NC_000008.9:g.18302075C>T | NCBI36 |
| NG_012246.1:g.14041C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.282C>T MANE Select | ENSP00000286479.3:p.Tyr94= | |
| ENST00000286479.3:c.282C>T | ENSP00000286479.3:p.Tyr94= | |
| ENST00000520116.1:c.-57-52C>T | ENSP00000428416.1:n.-57-52C>T | |
| NM_000015.2:c.282C>T | NP_000006.2:p.Tyr94= | |
| XM_011544358.1:c.282C>T | XP_011542660.1:p.Tyr94= | |
| XM_017012938.1:c.282C>T | XP_016868427.1:p.Tyr94= | |
| NM_000015.3:c.282C>T MANE Select | NP_000006.2:p.Tyr94= |