Linked Data
ClinVar Variation Id:
538234
dbSNP Id:
rs1355709394
gnomAD v2:
2-30143442-G-A
gnomAD v3:
2-29920576-G-A
gnomAD v4:
2-29920576-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29920576G>A , CM000664.2:g.29920576G>A | GRCh38 |
| NC_000002.11:g.30143442G>A , CM000664.1:g.30143442G>A | GRCh37 |
| NC_000002.10:g.29996946G>A | NCBI36 |
| NG_009445.1:g.5991C>T , LRG_488:g.5991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.84C>T MANE Select | ENSP00000373700.3:p.Arg28= | |
| ENST00000389048.7:c.84C>T | ENSP00000373700.3:p.Arg28= | |
| NM_004304.4:c.84C>T | NP_004295.2:p.Arg28= | |
| XR_001738688.2:n.1014C>T | ||
| NM_004304.5:c.84C>T MANE Select | NP_004295.2:p.Arg28= |