Linked Data
ClinVar Variation Id:
1500449
ClinVar RCV Id:
RCV002015656
dbSNP Id:
rs747456400
ExAC:
17:4857099 G / A
gnomAD v2:
17-4857099-G-A
gnomAD v3:
17-4953804-G-A
gnomAD v4:
17-4953804-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4953804G>A , CM000679.2:g.4953804G>A | GRCh38 |
| NC_000017.10:g.4857099G>A , CM000679.1:g.4857099G>A | GRCh37 |
| NC_000017.9:g.4797845G>A | NCBI36 |
| NG_012063.2:g.12714G>A | |
| NG_032945.1:g.283C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.403G>A MANE Select | ENSP00000430055.2:p.Ala135Thr | |
| ENST00000323997.10:c.403G>A | ENSP00000324105.6:p.Ala135Thr | |
| ENST00000518175.1:c.403G>A | ENSP00000431087.1:p.Ala135Thr | |
| ENST00000519584.5:c.274G>A | ENSP00000430636.1:p.Ala92Thr | |
| ENST00000519602.5:c.403G>A | ENSP00000430055.1:p.Ala135Thr | |
| ENST00000519834.5:n.469G>A | ||
| ENST00000520221.5:c.403G>A | ENSP00000467444.1:p.Ala135Thr | |
| ENST00000521659.5:c.*349G>A | ENSP00000430554.1:n.*349G>A | |
| ENST00000521811.5:c.403G>A | ENSP00000464874.1:p.Ala135Thr | |
| ENST00000522249.5:c.403G>A | ENSP00000428811.1:p.Ala135Thr | |
| ENST00000522301.5:c.403G>A | ENSP00000465697.1:p.Ala135Thr | |
| ENST00000522798.5:c.403G>A | ENSP00000428502.1:p.Ala135Thr | |
| NM_001193503.1:c.274G>A | NP_001180432.1:p.Ala92Thr | |
| NM_001976.4:c.403G>A | NP_001967.3:p.Ala135Thr | |
| NM_053013.3:c.403G>A | NP_443739.3:p.Ala135Thr | |
| XM_005256521.2:c.430G>A | XP_005256578.1:p.Ala144Thr | |
| XM_011523729.1:c.403G>A | XP_011522031.1:p.Ala135Thr | |
| XM_017024346.2:c.403G>A | XP_016879835.1:p.Ala135Thr | |
| NM_001193503.2:c.274G>A | NP_001180432.1:p.Ala92Thr | |
| NM_001374523.1:c.403G>A | NP_001361452.1:p.Ala135Thr | |
| NM_001374524.1:c.430G>A | NP_001361453.1:p.Ala144Thr | |
| NM_001976.5:c.403G>A | NP_001967.3:p.Ala135Thr | |
| NM_053013.4:c.403G>A MANE Select | NP_443739.3:p.Ala135Thr |