Linked Data
ClinVar Variation Id:
376038
dbSNP Id:
rs778561687
gnomAD v2:
19-40741860-C-T
gnomAD v3:
19-40235953-C-T
gnomAD v4:
19-40235953-C-T
COSMIC:
COSM3960070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40235953C>T , CM000681.2:g.40235953C>T | GRCh38 |
| NC_000019.9:g.40741860C>T , CM000681.1:g.40741860C>T | GRCh37 |
| NC_000019.8:g.45433700C>T | NCBI36 |
| NG_012038.2:g.54406G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392038.7:c.1112G>A MANE Select | ENSP00000375892.2:p.Arg371His | |
| ENST00000578615.6:c.991G>A | ||
| ENST00000311278.10:c.983G>A | ENSP00000309428.6:p.Arg328His | |
| ENST00000391844.8:c.*726G>A | ENSP00000375719.4:n.*726G>A | |
| ENST00000391845.6:n.577G>A | ||
| ENST00000392038.6:c.1112G>A | ENSP00000375892.2:p.Arg371His | |
| ENST00000424901.5:c.983G>A | ENSP00000399532.2:p.Arg328His | |
| ENST00000476247.6:c.119G>A | ENSP00000463368.1:p.Arg40His | |
| ENST00000476266.5:n.1440G>A | ||
| ENST00000483166.5:n.2583G>A | ||
| ENST00000489375.5:c.79G>A | ||
| ENST00000496089.6:n.531G>A | ||
| ENST00000497948.5:c.6G>A | ||
| ENST00000578615.5:c.680G>A | ENSP00000463262.1:p.Arg227His | |
| ENST00000579047.5:c.926G>A | ENSP00000471369.1:p.Arg309His | |
| ENST00000584288.5:c.*726G>A | ENSP00000462469.1:n.*726G>A | |
| NM_001243027.2:c.926G>A | NP_001229956.1:p.Arg309His | |
| NM_001243028.2:c.926G>A | NP_001229957.1:p.Arg309His | |
| NM_001626.5:c.1112G>A | NP_001617.1:p.Arg371His | |
| XM_011526614.1:c.1112G>A | XP_011524916.1:p.Arg371His | |
| XM_011526615.1:c.1112G>A | XP_011524917.1:p.Arg371His | |
| XM_011526616.1:c.1112G>A | XP_011524918.1:p.Arg371His | |
| XM_011526617.1:c.1112G>A | XP_011524919.1:p.Arg371His | |
| XM_011526618.1:c.1112G>A | XP_011524920.1:p.Arg371His | |
| XM_011526619.1:c.1112G>A | XP_011524921.1:p.Arg371His | |
| XM_011526620.1:c.1112G>A | XP_011524922.1:p.Arg371His | |
| XM_011526621.1:c.1112G>A | XP_011524923.1:p.Arg371His | |
| XM_011526622.1:c.1112G>A | XP_011524924.1:p.Arg371His | |
| NM_001330511.1:c.983G>A | NP_001317440.1:p.Arg328His | |
| XM_011526622.2:c.1112G>A | XP_011524924.1:p.Arg371His | |
| XM_017026470.2:c.1112G>A | XP_016881959.1:p.Arg371His | |
| XM_024451416.1:c.1112G>A | XP_024307184.1:p.Arg371His | |
| XM_024451417.1:c.983G>A | XP_024307185.1:p.Arg328His | |
| NM_001626.6:c.1112G>A MANE Select | NP_001617.1:p.Arg371His | |
| NM_001243027.3:c.926G>A | NP_001229956.1:p.Arg309His | |
| NM_001243028.3:c.926G>A | NP_001229957.1:p.Arg309His |