Linked Data
ClinVar Variation Id:
2728768
ClinVar RCV Id:
RCV003501581
gnomAD v4:
1-55061517-C-T
MyVariant Identifiers:
chr1:g.55527190C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061517C>T , CM000663.2:g.55061517C>T | GRCh38 |
| NC_000001.10:g.55527190C>T , CM000663.1:g.55527190C>T | GRCh37 |
| NC_000001.9:g.55299778C>T | NCBI36 |
| NG_009061.1:g.26971C>T , LRG_275:g.26971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*164C>T | ENSP00000501161.2:n.*164C>T | |
| ENST00000710286.1:c.2181C>T | ENSP00000518176.1:p.Cys727= | |
| ENST00000673903.1:c.1449C>T | ENSP00000501257.1:p.Cys483= | |
| ENST00000673913.1:c.674C>T | ENSP00000501161.1:n.674C>T | |
| ENST00000302118.5:c.1824C>T MANE Select | ENSP00000303208.5:p.Cys608= | |
| ENST00000490692.1:n.2370C>T | ||
| NM_174936.3:c.1824C>T , LRG_275t1:c.1824C>T | NP_777596.2:p.Cys608= | |
| NR_110451.1:n.1431C>T | ||
| XM_011541193.1:c.945C>T | XP_011539495.1:p.Cys315= | |
| NM_174936.4:c.1824C>T MANE Select | NP_777596.2:p.Cys608= | |
| NR_110451.2:n.1431C>T |