Linked Data
ClinVar Variation Id:
2962566
ClinVar RCV Id:
RCV003827676
gnomAD v4:
1-11965488-C-T
MyVariant Identifiers:
chr1:g.12025545C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965488C>T , CM000663.2:g.11965488C>T | GRCh38 |
| NC_000001.10:g.12025545C>T , CM000663.1:g.12025545C>T | GRCh37 |
| NC_000001.9:g.11948132C>T | NCBI36 |
| NG_008159.1:g.35800C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1479C>T MANE Select | ENSP00000196061.4:p.Phe493= | |
| ENST00000196061.4:c.1479C>T | ENSP00000196061.4:p.Phe493= | |
| ENST00000470133.1:n.93C>T | ||
| ENST00000491536.5:n.107C>T | ||
| NM_000302.3:c.1479C>T | NP_000293.2:p.Phe493= | |
| NM_001316320.1:c.1620C>T | NP_001303249.1:p.Phe540= | |
| XM_011541594.1:c.1560C>T | XP_011539896.1:p.Phe520= | |
| XM_024447707.1:c.813C>T | XP_024303475.1:p.Phe271= | |
| NM_000302.4:c.1479C>T MANE Select | NP_000293.2:p.Phe493= | |
| NM_001316320.2:c.1620C>T | NP_001303249.1:p.Phe540= |