Linked Data
ClinVar Variation Id:
483304
ClinVar RCV Id:
RCV000571558
dbSNP Id:
rs1555201318
gnomAD v4:
12-57751227-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57751227A>G , CM000674.2:g.57751227A>G | GRCh38 |
| NC_000012.11:g.58145010A>G , CM000674.1:g.58145010A>G | GRCh37 |
| NC_000012.10:g.56431277A>G | NCBI36 |
| NG_007484.2:g.6155T>C , LRG_490:g.6155T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257904.11:c.334T>C MANE Select | ENSP00000257904.5:p.Leu112= | |
| ENST00000257904.10:c.334T>C | ENSP00000257904.5:p.Leu112= | |
| ENST00000312990.10:c.264+70T>C | ENSP00000316889.6:n.264+70T>C | |
| ENST00000546489.5:c.112T>C | ENSP00000447779.1:p.Leu38= | |
| ENST00000547281.5:c.112T>C | ENSP00000447274.1:p.Leu38= | |
| ENST00000549606.5:c.-158+948T>C | ENSP00000447005.1:n.-158+948T>C | |
| ENST00000550419.5:c.334T>C | ENSP00000448098.1:p.Leu112= | |
| ENST00000551706.1:n.700T>C | ||
| ENST00000551800.5:c.112T>C | ENSP00000449391.1:p.Leu38= | |
| ENST00000551888.5:n.442+70T>C | ||
| ENST00000552254.5:c.334T>C | ENSP00000449179.1:p.Leu112= | |
| ENST00000552388.1:c.334T>C | ENSP00000448963.1:p.Leu112= | |
| ENST00000552862.1:c.334T>C | ENSP00000446763.1:p.Leu112= | |
| ENST00000553237.5:c.219-137T>C | ENSP00000448885.1:n.219-137T>C | |
| NM_000075.3:c.334T>C | NP_000066.1:p.Leu112= | |
| NM_000075.4:c.334T>C MANE Select | NP_000066.1:p.Leu112= |