Linked Data
ClinVar Variation Id:
497282
dbSNP Id:
rs144659619
ExAC:
5:171766016 C / T
gnomAD v2:
5-171766016-C-T
gnomAD v3:
5-172339012-C-T
gnomAD v4:
5-172339012-C-T
COSMIC:
COSM3853738
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172339012C>T , CM000667.2:g.172339012C>T | GRCh38 |
| NC_000005.9:g.171766016C>T , CM000667.1:g.171766016C>T | GRCh37 |
| NC_000005.8:g.171698621C>T | NCBI36 |
| NG_027746.1:g.120512G>A | |
| NG_027746.2:g.120512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311601.6:c.2093G>A MANE Select | ENSP00000309714.5:p.Arg698Gln | |
| ENST00000636523.1:c.1228+7124G>A | ||
| ENST00000311601.5:c.2093G>A | ENSP00000309714.5:p.Arg698Gln | |
| ENST00000518522.5:c.201-5243G>A | ||
| ENST00000519643.5:c.1188+7124G>A | ENSP00000430890.1:n.1188+7124G>A | |
| NM_001017995.2:c.2093G>A | NP_001017995.1:p.Arg698Gln | |
| NM_001308175.1:c.1188+7124G>A | NP_001295104.1:n.1188+7124G>A | |
| XM_017009351.1:c.2177G>A | XP_016864840.1:p.Arg726Gln | |
| NM_001017995.3:c.2093G>A MANE Select | NP_001017995.1:p.Arg698Gln | |
| NM_001308175.2:c.1188+7124G>A | NP_001295104.1:n.1188+7124G>A |