Linked Data
dbSNP Id:
rs116364703
ExAC:
1:98015146 T / A
gnomAD v2:
1-98015146-T-A
gnomAD v3:
1-97549590-T-A
gnomAD v4:
1-97549590-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97549590T>A , CM000663.2:g.97549590T>A | GRCh38 |
| NC_000001.10:g.98015146T>A , CM000663.1:g.98015146T>A | GRCh37 |
| NC_000001.9:g.97787734T>A | NCBI36 |
| NG_008807.2:g.376470A>T , LRG_722:g.376470A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1494A>T MANE Select | ENSP00000359211.3:p.Gln498His | |
| ENST00000370192.7:c.1494A>T | ENSP00000359211.3:p.Gln498His | |
| NM_000110.3:c.1494A>T , LRG_722t1:c.1494A>T | NP_000101.2:p.Gln498His | |
| XM_005270562.3:c.1494A>T | XP_005270619.2:p.Gln498His | |
| XM_006710397.2:c.1494A>T | XP_006710460.1:p.Gln498His | |
| XM_006710397.3:c.1494A>T | XP_006710460.1:p.Gln498His | |
| XM_017000507.1:c.1383A>T | XP_016855996.1:p.Gln461His | |
| XM_017000508.2:c.999A>T | XP_016855997.1:p.Gln333His | |
| XM_017000509.2:c.999A>T | XP_016855998.1:p.Gln333His | |
| XM_017000510.1:c.999A>T | XP_016855999.1:p.Gln333His | |
| NM_000110.4:c.1494A>T MANE Select | NP_000101.2:p.Gln498His |