Linked Data
ClinVar Variation Id:
2849045
ClinVar RCV Id:
RCV003625817
dbSNP Id:
rs1638446095
gnomAD v4:
1-23808153-G-A
MyVariant Identifiers:
chr1:g.24134643G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23808153G>A , CM000663.2:g.23808153G>A | GRCh38 |
| NC_000001.10:g.24134643G>A , CM000663.1:g.24134643G>A | GRCh37 |
| NC_000001.9:g.24007230G>A | NCBI36 |
| NG_013061.1:g.22307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.732C>T MANE Select | ENSP00000363614.3:p.Asn244= | |
| ENST00000235958.4:c.302C>T | ||
| ENST00000374487.6:c.*773C>T | ENSP00000363611.2:n.*773C>T | |
| ENST00000374490.7:c.732C>T | ENSP00000363614.3:p.Asn244= | |
| ENST00000436439.6:c.519C>T | ENSP00000389281.2:p.Asn173= | |
| ENST00000496907.1:n.367C>T | ||
| ENST00000509389.5:n.423C>T | ||
| NM_000191.2:c.732C>T | NP_000182.2:p.Asn244= | |
| NM_001166059.1:c.519C>T | NP_001159531.1:p.Asn173= | |
| NM_000191.3:c.732C>T MANE Select | NP_000182.2:p.Asn244= | |
| NM_001166059.2:c.519C>T | NP_001159531.1:p.Asn173= |