Linked Data
ClinVar Variation Id:
353294
ClinVar RCV Id:
RCV000335891
dbSNP Id:
rs10053847
gnomAD v2:
5-35878140-G-A
gnomAD v3:
5-35878038-G-A
gnomAD v4:
5-35878038-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35878038G>A , CM000667.2:g.35878038G>A | GRCh38 |
| NC_000005.9:g.35878140G>A , CM000667.1:g.35878140G>A | GRCh37 |
| NC_000005.8:g.35913897G>A | NCBI36 |
| NG_009567.1:g.26150G>A , LRG_74:g.26150G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303115.8:c.*1552G>A MANE Select | ENSP00000306157.3:n.*1552G>A | |
| ENST00000303115.7:c.*1552G>A | ENSP00000306157.3:n.*1552G>A | |
| NM_002185.3:c.*1552G>A | NP_002176.2:n.*1552G>A | |
| NR_120485.1:n.2772G>A | ||
| NM_002185.4:c.*1552G>A | NP_002176.2:n.*1552G>A | |
| NR_120485.2:n.2798G>A | ||
| XM_005248299.4:c.*2049G>A | XP_005248356.1:n.*2049G>A | |
| NM_002185.5:c.*1552G>A MANE Select | NP_002176.2:n.*1552G>A | |
| NR_120485.3:n.2756G>A |