Linked Data
ClinVar Variation Id:
2256065
ClinVar RCV Id:
RCV002807800
dbSNP Id:
rs1358983710
gnomAD v2:
17-4858534-T-A
gnomAD v4:
17-4955239-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955239T>A , CM000679.2:g.4955239T>A | GRCh38 |
| NC_000017.10:g.4858534T>A , CM000679.1:g.4858534T>A | GRCh37 |
| NC_000017.9:g.4799280T>A | NCBI36 |
| NG_012063.2:g.14149T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.609T>A MANE Select | ENSP00000430055.2:p.Asp203Glu | |
| ENST00000323997.10:c.609T>A | ENSP00000324105.6:p.Asp203Glu | |
| ENST00000518175.1:c.609T>A | ENSP00000431087.1:p.Asp203Glu | |
| ENST00000519584.5:c.480T>A | ENSP00000430636.1:p.Asp160Glu | |
| ENST00000519602.5:c.609T>A | ENSP00000430055.1:p.Asp203Glu | |
| ENST00000521659.5:c.*555T>A | ENSP00000430554.1:n.*555T>A | |
| ENST00000522301.5:c.609T>A | ENSP00000465697.1:p.Asp203Glu | |
| NM_001193503.1:c.480T>A | NP_001180432.1:p.Asp160Glu | |
| NM_001976.4:c.609T>A | NP_001967.3:p.Asp203Glu | |
| NM_053013.3:c.609T>A | NP_443739.3:p.Asp203Glu | |
| XM_005256521.2:c.636T>A | XP_005256578.1:p.Asp212Glu | |
| XM_011523729.1:c.609T>A | XP_011522031.1:p.Asp203Glu | |
| XM_017024346.2:c.609T>A | XP_016879835.1:p.Asp203Glu | |
| NM_001193503.2:c.480T>A | NP_001180432.1:p.Asp160Glu | |
| NM_001374523.1:c.609T>A | NP_001361452.1:p.Asp203Glu | |
| NM_001374524.1:c.636T>A | NP_001361453.1:p.Asp212Glu | |
| NM_001976.5:c.609T>A | NP_001967.3:p.Asp203Glu | |
| NM_053013.4:c.609T>A MANE Select | NP_443739.3:p.Asp203Glu |