Linked Data
ClinVar Variation Id:
1348042
ClinVar RCV Id:
RCV002033254
dbSNP Id:
rs2145879184
gnomAD v4:
20-44160031-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44160031G>T , CM000682.2:g.44160031G>T | GRCh38 |
| NC_000020.10:g.42788671G>T , CM000682.1:g.42788671G>T | GRCh37 |
| NC_000020.9:g.42222085G>T | NCBI36 |
| NG_031867.1:g.32548C>A , LRG_394:g.32548C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.756C>A MANE Select | ENSP00000362071.3:p.Asp252Glu | |
| ENST00000372980.3:c.756C>A | ENSP00000362071.3:p.Asp252Glu | |
| NM_020433.4:c.756C>A , LRG_394t1:c.756C>A | NP_065166.2:p.Asp252Glu | |
| XM_006723832.2:c.756C>A | XP_006723895.1:p.Asp252Glu | |
| NM_020433.5:c.756C>A MANE Select | NP_065166.2:p.Asp252Glu |