Linked Data
ClinVar Variation Id:
314590
ClinVar RCV Id:
RCV000284292
dbSNP Id:
rs75823402
gnomAD v2:
14-77974196-C-A
gnomAD v3:
14-77507853-C-A
gnomAD v4:
14-77507853-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77507853C>A , CM000676.2:g.77507853C>A | GRCh38 |
| NC_000014.8:g.77974196C>A , CM000676.1:g.77974196C>A | GRCh37 |
| NC_000014.7:g.77043949C>A | NCBI36 |
| NG_028282.1:g.113915G>T , LRG_371:g.113915G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.5152G>T | ||
| ENST00000687688.1:n.5883G>T | ||
| ENST00000692906.1:n.5852G>T | ||
| ENST00000216484.7:c.*4431G>T MANE Select | ENSP00000216484.2:n.*4431G>T | |
| ENST00000216484.6:c.*4431G>T | ENSP00000216484.2:n.*4431G>T | |
| NM_004863.3:c.*4431G>T , LRG_371t1:c.*4431G>T | NP_004854.1:n.*4431G>T | |
| NM_004863.4:c.*4431G>T MANE Select | NP_004854.1:n.*4431G>T |