Linked Data
ClinVar Variation Id:
427048
ClinVar RCV Id:
RCV000489332
dbSNP Id:
rs1085307922
gnomAD v2:
14-23858146-G-A
gnomAD v3:
14-23388937-G-A
gnomAD v4:
14-23388937-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23388937G>A , CM000676.2:g.23388937G>A | GRCh38 |
| NC_000014.8:g.23858146G>A , CM000676.1:g.23858146G>A | GRCh37 |
| NC_000014.7:g.22927986G>A | NCBI36 |
| NG_023444.1:g.24341C>T , LRG_389:g.24341C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405093.9:c.4097C>T MANE Select | ENSP00000386041.3:p.Ala1366Val | |
| ENST00000356287.3:c.4097C>T | ENSP00000348634.3:p.Ala1366Val | |
| ENST00000405093.7:c.4097C>T | ENSP00000386041.3:p.Ala1366Val | |
| NM_002471.3:c.4097C>T , LRG_389t1:c.4097C>T | NP_002462.2:p.Ala1366Val | |
| NM_002471.4:c.4097C>T MANE Select | NP_002462.2:p.Ala1366Val |