Linked Data
ClinVar Variation Id:
1571423
ClinVar RCV Id:
RCV002217705
dbSNP Id:
rs2111843419
MyVariant Identifiers:
chr5:g.32712647G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32712541G>A , CM000667.2:g.32712541G>A | GRCh38 |
| NC_000005.9:g.32712647G>A , CM000667.1:g.32712647G>A | GRCh37 |
| NC_000005.8:g.32748404G>A | NCBI36 |
| NG_028162.1:g.6905G>A | |
| NG_028162.2:g.28466G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265074.13:c.765G>A MANE Select | ENSP00000265074.8:p.Glu255= | |
| ENST00000265074.12:c.765G>A | ENSP00000265074.8:p.Glu255= | |
| ENST00000326958.5:c.121+1758G>A | ENSP00000318340.2:n.121+1758G>A | |
| ENST00000415167.2:c.765G>A | ENSP00000398028.2:p.Glu255= | |
| ENST00000434067.6:c.121+1758G>A | ENSP00000388408.2:n.121+1758G>A | |
| ENST00000506712.1:n.130+1758G>A | ||
| ENST00000507141.1:c.211G>A | ||
| ENST00000509104.5:c.101-12157G>A | ENSP00000425325.1:n.101-12157G>A | |
| NM_000908.3:c.765G>A | NP_000899.1:p.Glu255= | |
| NM_001204375.1:c.765G>A | NP_001191304.1:p.Glu255= | |
| NM_001204376.1:c.121+1758G>A | NP_001191305.1:n.121+1758G>A | |
| XM_005248309.1:c.121+1758G>A | XP_005248366.1:n.121+1758G>A | |
| XM_005248310.2:c.765G>A | XP_005248367.1:p.Glu255= | |
| XM_011514047.1:c.101-12157G>A | XP_011512349.1:n.101-12157G>A | |
| XM_011514048.1:c.50-12157G>A | XP_011512350.1:n.50-12157G>A | |
| XM_011514049.1:c.-8-12157G>A | XP_011512351.1:n.-8-12157G>A | |
| XM_011514050.1:c.765G>A | XP_011512352.1:p.Glu255= | |
| NM_001363652.1:c.121+1758G>A | NP_001350581.1:n.121+1758G>A | |
| NM_001364458.1:c.50-12157G>A | NP_001351387.1:n.50-12157G>A | |
| NM_001364460.1:c.121+1758G>A | NP_001351389.1:n.121+1758G>A | |
| XM_011514047.2:c.101-12157G>A | XP_011512349.1:n.101-12157G>A | |
| XM_011514049.3:c.-8-12157G>A | XP_011512351.1:n.-8-12157G>A | |
| XM_011514050.2:c.765G>A | XP_011512352.1:p.Glu255= | |
| XM_017009492.2:c.765G>A | XP_016864981.1:p.Glu255= | |
| NM_001204375.2:c.765G>A MANE Select | NP_001191304.1:p.Glu255= | |
| NM_000908.4:c.765G>A | NP_000899.1:p.Glu255= | |
| NM_001363652.2:c.121+1758G>A | NP_001350581.1:n.121+1758G>A | |
| NM_001364458.2:c.50-12157G>A | NP_001351387.1:n.50-12157G>A | |
| NM_001364460.2:c.121+1758G>A | NP_001351389.1:n.121+1758G>A | |
| NM_001204376.2:c.121+1758G>A | NP_001191305.1:n.121+1758G>A |