Linked Data
ClinVar Variation Id:
2190409
dbSNP Id:
rs778296544
gnomAD v2:
20-10620272-C-A
gnomAD v4:
20-10639624-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10639624C>A , CM000682.2:g.10639624C>A | GRCh38 |
| NC_000020.10:g.10620272C>A , CM000682.1:g.10620272C>A | GRCh37 |
| NC_000020.9:g.10568272C>A | NCBI36 |
| NG_007496.1:g.39423G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.3531G>T MANE Select | ENSP00000254958.4:p.Thr1177= | |
| ENST00000254958.9:c.3531G>T | ENSP00000254958.4:p.Thr1177= | |
| ENST00000423891.6:n.3397G>T | ||
| NM_000214.2:c.3531G>T | NP_000205.1:p.Thr1177= | |
| NM_000214.3:c.3531G>T MANE Select | NP_000205.1:p.Thr1177= |