Linked Data
ClinVar Variation Id:
440943
ClinVar RCV Id:
RCV000509181
dbSNP Id:
rs868507082
gnomAD v3:
2-73075627-C-T
gnomAD v4:
2-73075627-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73075627C>T , CM000664.2:g.73075627C>T | GRCh38 |
| NC_000002.11:g.73302755C>T , CM000664.1:g.73302755C>T | GRCh37 |
| NC_000002.10:g.73156263C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486777.7:c.3869G>A MANE Select | ENSP00000489752.1:p.Arg1290Gln | |
| ENST00000258098.6:c.1856G>A | ENSP00000258098.6:p.Arg619Gln | |
| ENST00000482554.5:n.567G>A | ||
| ENST00000486777.5:n.849G>A | ||
| ENST00000493523.2:n.1765G>A | ||
| NM_015470.2:c.1856G>A | NP_056285.1:p.Arg619Gln | |
| XM_005264251.2:c.3551G>A | XP_005264308.1:p.Arg1184Gln | |
| XM_005264252.2:c.3869G>A | XP_005264309.1:p.Arg1290Gln | |
| XM_006711985.2:c.3644G>A | XP_006712048.1:p.Arg1215Gln | |
| XM_011532753.1:c.3251G>A | XP_011531055.1:p.Arg1084Gln | |
| XR_939676.1:n.2394G>A | ||
| NM_001371272.1:c.3869G>A MANE Select | NP_001358201.1:p.Arg1290Gln | |
| NM_015470.3:c.1856G>A | NP_056285.1:p.Arg619Gln |