Linked Data
ClinVar Variation Id:
403021
ClinVar RCV Id:
RCV000454619
dbSNP Id:
rs76438938
ExAC:
3:186461524 C / T
gnomAD v2:
3-186461524-C-T
gnomAD v3:
3-186743735-C-T
gnomAD v4:
3-186743735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186743735C>T , CM000665.2:g.186743735C>T | GRCh38 |
| NC_000003.11:g.186461524C>T , CM000665.1:g.186461524C>T | GRCh37 |
| NC_000003.10:g.187944218C>T | NCBI36 |
| NG_016009.1:g.31427C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287611.8:c.1234C>T | ENSP00000287611.2:p.Arg412Ter | |
| ENST00000644859.2:c.*1404C>T MANE Select | ENSP00000493985.1:n.*1404C>T | |
| ENST00000287611.6:c.1234C>T | ENSP00000287611.2:p.Arg412Ter | |
| ENST00000447445.1:c.1126C>T | ENSP00000396025.1:p.Arg376Ter | |
| NM_000893.3:c.1234C>T | NP_000884.1:p.Arg412Ter | |
| NM_001166451.1:c.1126C>T | NP_001159923.1:p.Arg376Ter | |
| NM_000893.4:c.1234C>T | NP_000884.1:p.Arg412Ter | |
| NM_001102416.3:c.*1404C>T MANE Select | NP_001095886.1:n.*1404C>T | |
| NM_001166451.2:c.1126C>T | NP_001159923.1:p.Arg376Ter |