Linked Data
ClinVar Variation Id:
1021648
ClinVar RCV Id:
RCV001321446
dbSNP Id:
rs147206385
ExAC:
2:112754944 G / A
gnomAD v2:
2-112754944-G-A
gnomAD v3:
2-111997367-G-A
gnomAD v4:
2-111997367-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111997367G>A , CM000664.2:g.111997367G>A | GRCh38 |
| NC_000002.11:g.112754944G>A , CM000664.1:g.112754944G>A | GRCh37 |
| NC_000002.10:g.112471415G>A | NCBI36 |
| NG_011607.1:g.103754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.1495G>A MANE Select | ENSP00000295408.4:p.Ala499Thr | |
| ENST00000295408.8:c.1495G>A | ENSP00000295408.4:p.Ala499Thr | |
| ENST00000409780.5:c.967G>A | ENSP00000387277.1:p.Ala323Thr | |
| ENST00000421804.6:c.1495G>A | ENSP00000389152.2:p.Ala499Thr | |
| ENST00000439966.5:c.*968G>A | ENSP00000402129.1:n.*968G>A | |
| ENST00000616902.4:c.464G>A | ENSP00000482824.1:p.Arg155His | |
| NM_006343.2:c.1495G>A | NP_006334.2:p.Ala499Thr | |
| XM_005263565.3:c.1495G>A | XP_005263622.1:p.Ala499Thr | |
| XM_005263568.3:c.1495G>A | XP_005263625.1:p.Ala499Thr | |
| XM_011510490.1:c.1306G>A | XP_011508792.1:p.Ala436Thr | |
| XM_011510491.1:c.280G>A | XP_011508793.1:p.Ala94Thr | |
| XM_005263565.4:c.1495G>A | XP_005263622.1:p.Ala499Thr | |
| XM_005263568.4:c.1495G>A | XP_005263625.1:p.Ala499Thr | |
| XM_011510490.3:c.1306G>A | XP_011508792.1:p.Ala436Thr | |
| XM_017003164.1:c.1306G>A | XP_016858653.1:p.Ala436Thr | |
| XM_017003165.2:c.280G>A | XP_016858654.1:p.Ala94Thr | |
| NM_006343.3:c.1495G>A MANE Select | NP_006334.2:p.Ala499Thr |