Linked Data
ClinVar Variation Id:
459845
ClinVar RCV Id:
RCV000537166
dbSNP Id:
rs1275113273
gnomAD v3:
2-73424716-C-T
gnomAD v4:
2-73424716-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73424716C>T , CM000664.2:g.73424716C>T | GRCh38 |
| NC_000002.11:g.73651844C>T , CM000664.1:g.73651844C>T | GRCh37 |
| NC_000002.10:g.73505352C>T | NCBI36 |
| NG_011690.1:g.43962C>T , LRG_741:g.43962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.601C>T | ENSP00000507671.1:p.Arg201Ter | |
| ENST00000682675.1:n.1011C>T | ||
| ENST00000682801.1:c.601C>T | ENSP00000507862.1:p.Arg201Ter | |
| ENST00000682859.1:c.601C>T | ENSP00000508222.1:p.Arg201Ter | |
| ENST00000682889.1:n.1016C>T | ||
| ENST00000683791.1:c.405C>T | ||
| ENST00000684548.1:c.601C>T | ENSP00000507421.1:p.Arg201Ter | |
| ENST00000613296.6:c.1051C>T MANE Select | ENSP00000482968.1:p.Arg351Ter | |
| ENST00000484298.5:c.925C>T | ENSP00000478155.1:p.Arg309Ter | |
| ENST00000613296.4:c.1051C>T | ENSP00000482968.1:p.Arg351Ter | |
| ENST00000614410.4:c.1051C>T | ENSP00000479094.1:p.Arg351Ter | |
| NM_015120.4:c.1054C>T , LRG_741t1:c.1054C>T | NP_055935.4:p.Arg352Ter | |
| NM_001378454.1:c.1051C>T MANE Select | NP_001365383.1:p.Arg351Ter |