Linked Data
ClinVar Variation Id:
812563
ClinVar RCV Id:
RCV001003398
dbSNP Id:
rs1601319598
gnomAD v4:
22-27751043-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27751043G>A , CM000684.2:g.27751043G>A | GRCh38 |
| NC_000022.10:g.28147031G>A , CM000684.1:g.28147031G>A | GRCh37 |
| NC_000022.9:g.26477031G>A | NCBI36 |
| NG_023258.1:g.55456C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703102.1:n.360C>T | ||
| ENST00000302326.5:c.3835C>T MANE Select | ENSP00000304956.4:p.Gln1279Ter | |
| ENST00000302326.4:c.3835C>T | ENSP00000304956.4:p.Gln1279Ter | |
| ENST00000424656.1:c.188C>T | ||
| ENST00000497225.1:n.191C>T | ||
| NM_002430.2:c.3835C>T | NP_002421.3:p.Gln1279Ter | |
| NM_002430.3:c.3835C>T MANE Select | NP_002421.3:p.Gln1279Ter |