Linked Data
ClinVar Variation Id:
1673031
ClinVar RCV Id:
RCV002201903
dbSNP Id:
rs1645810603
gnomAD v4:
1-11965503-C-T
MyVariant Identifiers:
chr1:g.12025560C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965503C>T , CM000663.2:g.11965503C>T | GRCh38 |
| NC_000001.10:g.12025560C>T , CM000663.1:g.12025560C>T | GRCh37 |
| NC_000001.9:g.11948147C>T | NCBI36 |
| NG_008159.1:g.35815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1494C>T MANE Select | ENSP00000196061.4:p.Asn498= | |
| ENST00000196061.4:c.1494C>T | ENSP00000196061.4:p.Asn498= | |
| ENST00000470133.1:n.108C>T | ||
| ENST00000491536.5:n.122C>T | ||
| NM_000302.3:c.1494C>T | NP_000293.2:p.Asn498= | |
| NM_001316320.1:c.1635C>T | NP_001303249.1:p.Asn545= | |
| XM_011541594.1:c.1575C>T | XP_011539896.1:p.Asn525= | |
| XM_024447707.1:c.828C>T | XP_024303475.1:p.Asn276= | |
| NM_000302.4:c.1494C>T MANE Select | NP_000293.2:p.Asn498= | |
| NM_001316320.2:c.1635C>T | NP_001303249.1:p.Asn545= |