Linked Data
ClinVar Variation Id:
297889
dbSNP Id:
rs148979330
ExAC:
1:64117470 G / A
gnomAD v2:
1-64117470-G-A
gnomAD v3:
1-63651799-G-A
gnomAD v4:
1-63651799-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63651799G>A , CM000663.2:g.63651799G>A | GRCh38 |
| NC_000001.10:g.64117470G>A , CM000663.1:g.64117470G>A | GRCh37 |
| NC_000001.9:g.63890058G>A | NCBI36 |
| NG_016966.1:g.63524G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371084.8:c.1411G>A MANE Select | ENSP00000360125.3:p.Ala471Thr | |
| ENST00000650546.1:c.1411G>A | ENSP00000497812.1:p.Ala471Thr | |
| ENST00000371083.4:c.1465G>A | ENSP00000360124.4:p.Ala489Thr | |
| ENST00000371084.7:c.1411G>A | ENSP00000360125.3:p.Ala471Thr | |
| ENST00000483707.1:n.445G>A | ||
| ENST00000540265.5:c.820G>A | ENSP00000443449.1:p.Ala274Thr | |
| NM_001172818.1:c.1465G>A | NP_001166289.1:p.Ala489Thr | |
| NM_001172819.1:c.820G>A | NP_001166290.1:p.Ala274Thr | |
| NM_002633.2:c.1411G>A | NP_002624.2:p.Ala471Thr | |
| NM_002633.3:c.1411G>A MANE Select | NP_002624.2:p.Ala471Thr | |
| NM_001172819.2:c.820G>A | NP_001166290.1:p.Ala274Thr |