Linked Data
ClinVar Variation Id:
296452
dbSNP Id:
rs74942492
ExAC:
1:236645901 C / T
gnomAD v2:
1-236645901-C-T
gnomAD v3:
1-236482601-C-T
gnomAD v4:
1-236482601-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236482601C>T , CM000663.2:g.236482601C>T | GRCh38 |
| NC_000001.10:g.236645901C>T , CM000663.1:g.236645901C>T | GRCh37 |
| NC_000001.9:g.234712524C>T | NCBI36 |
| NG_011566.1:g.93222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334232.9:c.600C>T MANE Select | ENSP00000335076.4:p.Asp200= | |
| ENST00000359362.6:c.570C>T | ENSP00000352320.4:p.Asp190= | |
| ENST00000637660.1:c.534C>T | ENSP00000490347.1:p.Asp178= | |
| ENST00000642595.1:c.236-9136C>T | ENSP00000494458.1:n.236-9136C>T | |
| ENST00000334232.8:c.600C>T | ENSP00000335076.4:p.Asp200= | |
| ENST00000359362.5:c.570C>T | ENSP00000352320.4:p.Asp190= | |
| NM_080738.3:c.570C>T | NP_542776.1:p.Asp190= | |
| NM_145861.2:c.600C>T | NP_665860.2:p.Asp200= | |
| NM_080738.4:c.570C>T | NP_542776.1:p.Asp190= | |
| NM_145861.4:c.600C>T MANE Select | NP_665860.2:p.Asp200= |