Linked Data
ClinVar Variation Id:
137621
dbSNP Id:
rs587777445
gnomAD v4:
2-162276832-C-T
PubMed:
PMID:24686847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162276832C>T , CM000664.2:g.162276832C>T | GRCh38 |
| NC_000002.11:g.163133342C>T , CM000664.1:g.163133342C>T | GRCh37 |
| NC_000002.10:g.162841588C>T | NCBI36 |
| NG_011495.1:g.46698G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697291.1:c.*1756G>A | ENSP00000513228.1:n.*1756G>A | |
| ENST00000648433.1:c.2042G>A | ENSP00000496816.1:p.Arg681Gln | |
| ENST00000649554.1:n.1769G>A | ||
| ENST00000649979.2:c.2159G>A MANE Select | ENSP00000497271.1:p.Arg720Gln | |
| ENST00000679938.1:c.1847G>A | ENSP00000505518.1:p.Arg616Gln | |
| ENST00000263642.2:c.2159G>A | ENSP00000263642.2:p.Arg720Gln | |
| NM_022168.3:c.2159G>A | NP_071451.2:p.Arg720Gln | |
| XM_011511628.1:c.1442G>A | XP_011509930.1:p.Arg481Gln | |
| NM_022168.4:c.2159G>A MANE Select | NP_071451.2:p.Arg720Gln |