Linked Data
ClinVar Variation Id:
2891685
ClinVar RCV Id:
RCV003725066
dbSNP Id:
rs542906068
ExAC:
12:58159798 C / A
gnomAD v2:
12-58159798-C-A
gnomAD v3:
12-57766015-C-A
gnomAD v4:
12-57766015-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766015C>A , CM000674.2:g.57766015C>A | GRCh38 |
| NC_000012.11:g.58159798C>A , CM000674.1:g.58159798C>A | GRCh37 |
| NC_000012.10:g.56446065C>A | NCBI36 |
| NG_007076.1:g.6179G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.290G>T | ||
| ENST00000713544.1:c.378G>T | ENSP00000518840.1:p.Leu126= | |
| ENST00000713545.1:c.378G>T | ENSP00000518841.1:p.Leu126= | |
| ENST00000228606.9:c.378G>T MANE Select | ENSP00000228606.4:p.Leu126= | |
| ENST00000228606.8:c.378G>T | ENSP00000228606.4:p.Leu126= | |
| ENST00000546496.1:n.206G>T | ||
| ENST00000546609.1:c.290G>T | ||
| ENST00000547344.5:n.432G>T | ||
| ENST00000552186.1:n.497G>T | ||
| NM_000785.3:c.378G>T | NP_000776.1:p.Leu126= | |
| NM_000785.4:c.378G>T MANE Select | NP_000776.1:p.Leu126= |