Linked Data
ClinVar Variation Id:
2434893
ClinVar RCV Id:
RCV003134946
dbSNP Id:
rs1443489252
gnomAD v4:
1-155294707-C-T
COSMIC:
COSM5781847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155294707C>T , CM000663.2:g.155294707C>T | GRCh38 |
| NC_000001.10:g.155264498C>T , CM000663.1:g.155264498C>T | GRCh37 |
| NC_000001.9:g.153531122C>T | NCBI36 |
| NG_011677.1:g.11728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.740G>A MANE Select | ENSP00000339933.4:p.Gly247Asp | |
| ENST00000342741.4:c.740G>A | ENSP00000339933.4:p.Gly247Asp | |
| ENST00000392414.7:c.647G>A | ENSP00000376214.3:p.Gly216Asp | |
| NM_000298.5:c.740G>A | NP_000289.1:p.Gly247Asp | |
| NM_181871.3:c.647G>A | NP_870986.1:p.Gly216Asp | |
| XM_005245266.3:c.899G>A | XP_005245323.1:p.Gly300Asp | |
| XM_006711386.2:c.548G>A | XP_006711449.1:p.Gly183Asp | |
| XM_011509639.1:c.899G>A | XP_011507941.1:p.Gly300Asp | |
| XM_011509640.1:c.548G>A | XP_011507942.1:p.Gly183Asp | |
| NM_000298.6:c.740G>A MANE Select | NP_000289.1:p.Gly247Asp | |
| XM_006711386.4:c.548G>A | XP_006711449.1:p.Gly183Asp | |
| XM_011509640.3:c.548G>A | XP_011507942.1:p.Gly183Asp | |
| XM_017001493.1:c.740G>A | XP_016856982.1:p.Gly247Asp | |
| NM_181871.4:c.647G>A | NP_870986.1:p.Gly216Asp |