Linked Data
ClinVar Variation Id:
1511
dbSNP Id:
rs113403872
ExAC:
1:155261636 C / T
gnomAD v2:
1-155261636-C-T
gnomAD v3:
1-155291845-C-T
gnomAD v4:
1-155291845-C-T
COSMIC:
COSM675770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155291845C>T , CM000663.2:g.155291845C>T | GRCh38 |
| NC_000001.10:g.155261636C>T , CM000663.1:g.155261636C>T | GRCh37 |
| NC_000001.9:g.153528260C>T | NCBI36 |
| NG_011677.1:g.14590G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342741.6:c.1529G>A MANE Select | ENSP00000339933.4:p.Arg510Gln | |
| ENST00000342741.4:c.1529G>A | ENSP00000339933.4:p.Arg510Gln | |
| ENST00000392414.7:c.1436G>A | ENSP00000376214.3:p.Arg479Gln | |
| NM_000298.5:c.1529G>A | NP_000289.1:p.Arg510Gln | |
| NM_181871.3:c.1436G>A | NP_870986.1:p.Arg479Gln | |
| XM_005245266.3:c.1688G>A | XP_005245323.1:p.Arg563Gln | |
| XM_006711386.2:c.1337G>A | XP_006711449.1:p.Arg446Gln | |
| XM_011509640.1:c.1337G>A | XP_011507942.1:p.Arg446Gln | |
| NM_000298.6:c.1529G>A MANE Select | NP_000289.1:p.Arg510Gln | |
| XM_006711386.4:c.1337G>A | XP_006711449.1:p.Arg446Gln | |
| XM_011509640.3:c.1337G>A | XP_011507942.1:p.Arg446Gln | |
| NM_181871.4:c.1436G>A | NP_870986.1:p.Arg479Gln |