Linked Data
ClinVar Variation Id:
70495
ClinVar RCV Id:
RCV000290712
dbSNP Id:
rs145669565
gnomAD v3:
6-57207630-C-T
gnomAD v4:
6-57207630-C-T
COSMIC:
COSM110172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57207630C>T , CM000668.2:g.57207630C>T | GRCh38 |
| NC_000006.11:g.57072428C>T , CM000668.1:g.57072428C>T | GRCh37 |
| NC_000006.10:g.57180387C>T | NCBI36 |
| NG_012170.1:g.19651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468148.6:c.239G>A MANE Select | ENSP00000417610.1:p.Arg80Gln | |
| ENST00000317483.4:c.239G>A | ENSP00000320413.3:p.Arg80Gln | |
| ENST00000468148.5:c.239G>A | ENSP00000417610.1:p.Arg80Gln | |
| NM_001278666.1:c.239G>A | NP_001265595.1:p.Arg80Gln | |
| NM_001278667.1:c.239G>A | NP_001265596.1:p.Arg80Gln | |
| NM_001278668.1:c.239G>A | NP_001265597.1:p.Arg80Gln | |
| NM_016277.4:c.239G>A | NP_057361.3:p.Arg80Gln | |
| NM_183227.2:c.239G>A | NP_899050.1:p.Arg80Gln | |
| NR_103822.1:n.340+2596G>A | ||
| XM_005249179.2:c.239G>A | XP_005249236.1:p.Arg80Gln | |
| NM_016277.5:c.239G>A MANE Select | NP_057361.3:p.Arg80Gln | |
| NM_001278666.2:c.239G>A | NP_001265595.1:p.Arg80Gln | |
| NM_001278667.2:c.239G>A | NP_001265596.1:p.Arg80Gln | |
| NM_001278668.2:c.239G>A | NP_001265597.1:p.Arg80Gln | |
| NM_183227.3:c.239G>A | NP_899050.1:p.Arg80Gln | |
| NR_103822.2:n.333+2596G>A |