Linked Data
ClinVar Variation Id:
756922
ClinVar RCV Id:
RCV000934464
dbSNP Id:
rs1569732554
gnomAD v4:
1-36004366-A-G
MyVariant Identifiers:
chr1:g.36469967A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36004366A>G , CM000663.2:g.36004366A>G | GRCh38 |
| NC_000001.10:g.36469967A>G , CM000663.1:g.36469967A>G | GRCh37 |
| NC_000001.9:g.36242554A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373191.9:c.684A>G MANE Select | ENSP00000362287.3:p.Ala228= | |
| ENST00000246314.10:c.-19A>G | ENSP00000246314.6:n.-19A>G | |
| ENST00000373191.8:c.684A>G | ENSP00000362287.3:p.Ala228= | |
| ENST00000634486.1:c.*539A>G | ENSP00000489286.1:n.*539A>G | |
| NM_024852.3:c.684A>G | NP_079128.2:p.Ala228= | |
| NM_177422.2:c.-19A>G | NP_803171.1:n.-19A>G | |
| XM_005270575.2:c.684A>G | XP_005270632.1:p.Ala228= | |
| XM_011540879.1:c.639A>G | XP_011539181.1:p.Ala213= | |
| XM_011540880.1:c.639A>G | XP_011539182.1:p.Ala213= | |
| XM_011540881.1:c.477A>G | XP_011539183.1:p.Ala159= | |
| XM_011540882.1:c.-19A>G | XP_011539184.1:n.-19A>G | |
| XM_005270575.4:c.684A>G | XP_005270632.1:p.Ala228= | |
| XM_011540879.3:c.639A>G | XP_011539181.1:p.Ala213= | |
| XM_011540882.3:c.-19A>G | XP_011539184.1:n.-19A>G | |
| XM_017000523.2:c.684A>G | XP_016856012.1:p.Ala228= | |
| XM_017000524.2:c.-19A>G | XP_016856013.1:n.-19A>G | |
| XM_017000525.2:c.-19A>G | XP_016856014.1:n.-19A>G | |
| XM_017000526.2:c.-19A>G | XP_016856015.1:n.-19A>G | |
| XM_017000527.2:c.-19A>G | XP_016856016.1:n.-19A>G | |
| XM_017000528.2:c.-282A>G | XP_016856017.1:n.-282A>G | |
| NM_024852.4:c.684A>G MANE Select | NP_079128.2:p.Ala228= | |
| NM_177422.3:c.-19A>G | NP_803171.1:n.-19A>G |