Linked Data
dbSNP Id:
rs780657110
ExAC:
10:13325701 C / T
gnomAD v2:
10-13325701-C-T
gnomAD v4:
10-13283701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283701C>T , CM000672.2:g.13283701C>T | GRCh38 |
| NC_000010.10:g.13325701C>T , CM000672.1:g.13325701C>T | GRCh37 |
| NC_000010.9:g.13365707C>T | NCBI36 |
| NG_012862.1:g.21430G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263038.9:c.817G>A MANE Select | ENSP00000263038.4:p.Gly273Arg | |
| ENST00000263038.8:c.817G>A | ENSP00000263038.4:p.Gly273Arg | |
| ENST00000396913.6:c.517G>A | ENSP00000380121.2:p.Gly173Arg | |
| ENST00000396920.7:c.766G>A | ENSP00000380126.3:p.Gly256Arg | |
| ENST00000453759.6:c.517G>A | ENSP00000412525.2:p.Gly173Arg | |
| NM_001037537.1:c.517G>A | NP_001032626.1:p.Gly173Arg | |
| NM_006214.3:c.817G>A | NP_006205.1:p.Gly273Arg | |
| XM_005252469.2:c.598G>A | XP_005252526.1:p.Gly200Arg | |
| NM_001323080.1:c.517G>A | NP_001310009.1:p.Gly173Arg | |
| NM_001323082.1:c.823G>A | NP_001310011.1:p.Gly275Arg | |
| NM_001323083.1:c.553G>A | NP_001310012.1:p.Gly185Arg | |
| NM_001323084.1:c.523G>A | NP_001310013.1:p.Gly175Arg | |
| NM_006214.4:c.817G>A MANE Select | NP_006205.1:p.Gly273Arg | |
| NM_001037537.2:c.517G>A | NP_001032626.1:p.Gly173Arg | |
| NM_001323080.2:c.517G>A | NP_001310009.1:p.Gly173Arg | |
| NM_001323082.2:c.823G>A | NP_001310011.1:p.Gly275Arg | |
| NM_001323083.2:c.553G>A | NP_001310012.1:p.Gly185Arg | |
| NM_001323084.2:c.523G>A | NP_001310013.1:p.Gly175Arg |