Linked Data
ClinVar Variation Id:
450714
ClinVar RCV Id:
RCV000522811
dbSNP Id:
rs767643591
ExAC:
2:189927640 G / A
gnomAD v2:
2-189927640-G-A
gnomAD v4:
2-189062914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062914G>A , CM000664.2:g.189062914G>A | GRCh38 |
| NC_000002.11:g.189927640G>A , CM000664.1:g.189927640G>A | GRCh37 |
| NC_000002.10:g.189635885G>A | NCBI36 |
| NG_011799.1:g.121966C>T | |
| NG_011799.2:g.121966C>T | |
| NG_011799.3:g.167388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1928C>T MANE Select | ENSP00000364000.3:p.Ala643Val | |
| ENST00000374866.7:c.1928C>T | ENSP00000364000.3:p.Ala643Val | |
| ENST00000470524.2:n.34C>T | ||
| ENST00000618828.1:c.767C>T | ENSP00000482184.1:p.Ala256Val | |
| NM_000393.3:c.1928C>T | NP_000384.2:p.Ala643Val | |
| XM_011510573.1:c.1790C>T | XP_011508875.1:p.Ala597Val | |
| NM_000393.4:c.1928C>T | NP_000384.2:p.Ala643Val | |
| XM_011510573.3:c.1790C>T | XP_011508875.1:p.Ala597Val | |
| NM_000393.5:c.1928C>T MANE Select | NP_000384.2:p.Ala643Val |