Linked Data
ClinVar Variation Id:
538283
dbSNP Id:
rs200293454
ExAC:
2:29754891 G / A
gnomAD v2:
2-29754891-G-A
gnomAD v4:
2-29532025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29532025G>A , CM000664.2:g.29532025G>A | GRCh38 |
| NC_000002.11:g.29754891G>A , CM000664.1:g.29754891G>A | GRCh37 |
| NC_000002.10:g.29608395G>A | NCBI36 |
| NG_009445.1:g.394542C>T , LRG_488:g.394542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1044C>T MANE Select | ENSP00000373700.3:p.Ala348= | |
| ENST00000389048.7:c.1044C>T | ENSP00000373700.3:p.Ala348= | |
| ENST00000618119.4:c.-88C>T | ENSP00000482733.1:n.-88C>T | |
| NM_004304.4:c.1044C>T | NP_004295.2:p.Ala348= | |
| XR_001738688.2:n.1974C>T | ||
| NM_004304.5:c.1044C>T MANE Select | NP_004295.2:p.Ala348= |