Linked Data
ClinVar Variation Id:
1936964
ClinVar RCV Id:
RCV002642686
dbSNP Id:
rs1249459624
gnomAD v2:
8-19811635-C-T
gnomAD v4:
8-19954124-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954124C>T , CM000670.2:g.19954124C>T | GRCh38 |
| NC_000008.10:g.19811635C>T , CM000670.1:g.19811635C>T | GRCh37 |
| NC_000008.9:g.19855915C>T | NCBI36 |
| NG_008855.1:g.20054C>T | |
| NG_008855.2:g.57408C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.546C>T MANE Select | ENSP00000497642.1:p.Leu182= | |
| ENST00000311322.8:c.546C>T | ENSP00000309757.6:p.Leu182= | |
| ENST00000520959.5:c.318C>T | ENSP00000428496.1:p.Leu106= | |
| NM_000237.2:c.546C>T | NP_000228.1:p.Leu182= | |
| NM_000237.3:c.546C>T MANE Select | NP_000228.1:p.Leu182= |