Linked Data
dbSNP Id:
rs1835473877
gnomAD v3:
10-13283728-G-T
gnomAD v4:
10-13283728-G-T
COSMIC:
COSM916256
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283728G>T , CM000672.2:g.13283728G>T | GRCh38 |
| NC_000010.10:g.13325728G>T , CM000672.1:g.13325728G>T | GRCh37 |
| NC_000010.9:g.13365734G>T | NCBI36 |
| NG_012862.1:g.21403C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.790C>A MANE Select | ENSP00000263038.4:p.His264Asn | |
| ENST00000263038.8:c.790C>A | ENSP00000263038.4:p.His264Asn | |
| ENST00000396913.6:c.490C>A | ENSP00000380121.2:p.His164Asn | |
| ENST00000396920.7:c.739C>A | ENSP00000380126.3:p.His247Asn | |
| ENST00000453759.6:c.490C>A | ENSP00000412525.2:p.His164Asn | |
| NM_001037537.1:c.490C>A | NP_001032626.1:p.His164Asn | |
| NM_006214.3:c.790C>A | NP_006205.1:p.His264Asn | |
| XM_005252469.2:c.571C>A | XP_005252526.1:p.His191Asn | |
| NM_001323080.1:c.490C>A | NP_001310009.1:p.His164Asn | |
| NM_001323082.1:c.796C>A | NP_001310011.1:p.His266Asn | |
| NM_001323083.1:c.526C>A | NP_001310012.1:p.His176Asn | |
| NM_001323084.1:c.496C>A | NP_001310013.1:p.His166Asn | |
| NM_006214.4:c.790C>A MANE Select | NP_006205.1:p.His264Asn | |
| NM_001037537.2:c.490C>A | NP_001032626.1:p.His164Asn | |
| NM_001323080.2:c.490C>A | NP_001310009.1:p.His164Asn | |
| NM_001323082.2:c.796C>A | NP_001310011.1:p.His266Asn | |
| NM_001323083.2:c.526C>A | NP_001310012.1:p.His176Asn | |
| NM_001323084.2:c.496C>A | NP_001310013.1:p.His166Asn |