Linked Data
ClinVar Variation Id:
2825049
ClinVar RCV Id:
RCV003651048
dbSNP Id:
rs369013054
gnomAD v4:
7-21816574-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816574C>G , CM000669.2:g.21816574C>G | GRCh38 |
| NC_000007.13:g.21856192C>G , CM000669.1:g.21856192C>G | GRCh37 |
| NC_000007.12:g.21822717C>G | NCBI36 |
| NG_012886.2:g.278360C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10440C>G MANE Select | ENSP00000475939.1:p.Thr3480= | |
| ENST00000328843.10:c.10461C>G | ENSP00000330671.7:p.Thr3487= | |
| ENST00000409508.7:c.10440C>G | ENSP00000475939.1:p.Thr3480= | |
| ENST00000620169.4:c.10461C>G | ENSP00000481693.1:p.Thr3487= | |
| NM_001277115.1:c.10440C>G | NP_001264044.1:p.Thr3480= | |
| NM_001277115.2:c.10440C>G MANE Select | NP_001264044.1:p.Thr3480= |