Linked Data
ClinVar Variation Id:
1276500
ClinVar RCV Id:
RCV001687692
dbSNP Id:
rs28501997
gnomAD v2:
22-28146770-A-G
gnomAD v3:
22-27750782-A-G
gnomAD v4:
22-27750782-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750782A>G , CM000684.2:g.27750782A>G | GRCh38 |
| NC_000022.10:g.28146770A>G , CM000684.1:g.28146770A>G | GRCh37 |
| NC_000022.9:g.26476770A>G | NCBI36 |
| NG_023258.1:g.55717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.621T>C | ||
| ENST00000302326.5:c.*133T>C MANE Select | ENSP00000304956.4:n.*133T>C | |
| ENST00000302326.4:c.*133T>C | ENSP00000304956.4:n.*133T>C | |
| ENST00000424656.1:c.449T>C | ||
| ENST00000497225.1:n.452T>C | ||
| NM_002430.2:c.*133T>C | NP_002421.3:n.*133T>C | |
| NM_002430.3:c.*133T>C MANE Select | NP_002421.3:n.*133T>C |