Linked Data
ClinVar Variation Id:
1950658
ClinVar RCV Id:
RCV002681397
dbSNP Id:
rs1345941655
gnomAD v4:
1-145916882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145916882C>T , CM000663.2:g.145916882C>T | GRCh38 |
| NC_000001.10:g.145518207G>A , CM000663.1:g.145518207G>A | GRCh37 |
| NC_000001.9:g.144229564G>A | NCBI36 |
| NG_032654.2:g.15655G>A , LRG_574:g.15655G>A | |
| NG_033000.3:g.7043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.309G>A MANE Select | ENSP00000358312.3:p.Leu103= | |
| ENST00000369306.7:c.309G>A | ENSP00000358312.3:p.Leu103= | |
| ENST00000537888.1:c.267G>A | ENSP00000437510.1:p.Leu89= | |
| NM_001184795.1:c.267G>A | NP_001171724.1:p.Leu89= | |
| NM_003846.2:c.309G>A | NP_003837.1:p.Leu103= | |
| NR_073491.1:n.541G>A | ||
| NR_073492.1:n.535G>A | ||
| NR_073493.2:n.757G>A | ||
| NM_003846.3:c.309G>A MANE Select | NP_003837.1:p.Leu103= | |
| NR_073491.2:n.334G>A | ||
| NR_073492.2:n.328G>A |