Linked Data
ClinVar Variation Id:
521752
ClinVar RCV Id:
RCV001829745
dbSNP Id:
rs1212444447
gnomAD v2:
1-24151875-G-A
gnomAD v4:
1-23825385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23825385G>A , CM000663.2:g.23825385G>A | GRCh38 |
| NC_000001.10:g.24151875G>A , CM000663.1:g.24151875G>A | GRCh37 |
| NC_000001.9:g.24024462G>A | NCBI36 |
| NG_013061.1:g.5075C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374490.8:c.31C>T MANE Select | ENSP00000363614.3:p.Arg11Ter | |
| ENST00000235958.4:c.18C>T | ||
| ENST00000374487.6:c.*101+699C>T | ENSP00000363611.2:n.*101+699C>T | |
| ENST00000374490.7:c.31C>T | ENSP00000363614.3:p.Arg11Ter | |
| ENST00000436439.6:c.31C>T | ENSP00000389281.2:p.Arg11Ter | |
| ENST00000509389.5:n.43C>T | ||
| ENST00000513148.1:n.32C>T | ||
| NM_000191.2:c.31C>T | NP_000182.2:p.Arg11Ter | |
| NM_001166059.1:c.31C>T | NP_001159531.1:p.Arg11Ter | |
| NM_000191.3:c.31C>T MANE Select | NP_000182.2:p.Arg11Ter | |
| NM_001166059.2:c.31C>T | NP_001159531.1:p.Arg11Ter |