Linked Data
ClinVar Variation Id:
3034766
ClinVar RCV Id:
RCV003907135
dbSNP Id:
rs751374116
ExAC:
8:18257759 C / T
gnomAD v2:
8-18257759-C-T
gnomAD v3:
8-18400249-C-T
gnomAD v4:
8-18400249-C-T
COSMIC:
COSM3646978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400249C>T , CM000670.2:g.18400249C>T | GRCh38 |
| NC_000008.10:g.18257759C>T , CM000670.1:g.18257759C>T | GRCh37 |
| NC_000008.9:g.18302039C>T | NCBI36 |
| NG_012246.1:g.14005C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.246C>T MANE Select | ENSP00000286479.3:p.Ile82= | |
| ENST00000286479.3:c.246C>T | ENSP00000286479.3:p.Ile82= | |
| ENST00000520116.1:c.-57-88C>T | ENSP00000428416.1:n.-57-88C>T | |
| NM_000015.2:c.246C>T | NP_000006.2:p.Ile82= | |
| XM_011544358.1:c.246C>T | XP_011542660.1:p.Ile82= | |
| XM_017012938.1:c.246C>T | XP_016868427.1:p.Ile82= | |
| NM_000015.3:c.246C>T MANE Select | NP_000006.2:p.Ile82= |