Linked Data
ClinVar Variation Id:
2048273
ClinVar RCV Id:
RCV002927076
dbSNP Id:
rs1915168674
MyVariant Identifiers:
chr17:g.13980258A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14076941A>G , CM000679.2:g.14076941A>G | GRCh38 |
| NC_000017.10:g.13980258A>G , CM000679.1:g.13980258A>G | GRCh37 |
| NC_000017.9:g.13920983A>G | NCBI36 |
| NG_008034.1:g.12540A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.384A>G MANE Select | ENSP00000261643.3:p.Glu128= | |
| ENST00000664217.1:c.384A>G | ENSP00000499396.1:p.Glu128= | |
| ENST00000670279.1:c.384A>G | ENSP00000499450.1:p.Glu128= | |
| ENST00000261643.7:c.384A>G | ENSP00000261643.3:p.Glu128= | |
| ENST00000429152.6:c.384A>G | ENSP00000397750.2:p.Glu128= | |
| ENST00000580561.1:c.177+2485A>G | ENSP00000462190.1:n.177+2485A>G | |
| ENST00000581931.5:c.384A>G | ENSP00000462512.1:p.Glu128= | |
| NM_001303.3:c.384A>G | NP_001294.2:p.Glu128= | |
| XM_005256458.1:c.384A>G | XP_005256515.1:p.Glu128= | |
| XM_011523657.1:c.384A>G | XP_011521959.1:p.Glu128= | |
| XM_011523658.1:c.-68A>G | XP_011521960.1:n.-68A>G | |
| XR_933974.1:n.487A>G | ||
| XR_933975.1:n.487A>G | ||
| NM_001303.4:c.384A>G MANE Select | NP_001294.2:p.Glu128= |