Linked Data
ClinVar Variation Id:
1767974
dbSNP Id:
rs892942500
gnomAD v3:
19-45363890-C-T
gnomAD v4:
19-45363890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45363890C>T , CM000681.2:g.45363890C>T | GRCh38 |
| NC_000019.9:g.45867148C>T , CM000681.1:g.45867148C>T | GRCh37 |
| NC_000019.8:g.50558988C>T | NCBI36 |
| NG_007067.2:g.11698G>A , LRG_461:g.11698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.971G>A | ENSP00000375808.4:p.Arg324His | |
| ENST00000682414.1:c.971G>A | ENSP00000507019.1:p.Arg324His | |
| ENST00000682508.1:n.1000G>A | ||
| ENST00000684218.1:c.*229G>A | ENSP00000507804.1:n.*229G>A | |
| ENST00000684407.1:c.848G>A | ENSP00000507775.1:p.Arg283His | |
| ENST00000684458.1:c.971G>A | ENSP00000508260.1:p.Arg324His | |
| ENST00000391945.10:c.971G>A MANE Select | ENSP00000375809.4:p.Arg324His | |
| ENST00000587376.6:c.94G>A | ||
| ENST00000646507.1:n.1068G>A | ||
| ENST00000391941.6:c.899G>A | ENSP00000375805.2:p.Arg300His | |
| ENST00000391944.7:c.737G>A | ENSP00000375808.3:p.Arg246His | |
| ENST00000391945.8:c.971G>A | ENSP00000375809.3:p.Arg324His | |
| ENST00000485403.6:c.899G>A | ENSP00000431229.2:p.Arg300His | |
| ENST00000587376.5:c.94G>A | ||
| NM_000400.3:c.971G>A , LRG_461t1:c.971G>A | NP_000391.1:p.Arg324His | |
| NM_001130867.1:c.899G>A | NP_001124339.1:p.Arg300His | |
| XM_011526611.1:c.893G>A | XP_011524913.1:p.Arg298His | |
| XR_935763.1:n.1018G>A | ||
| XM_011526611.2:c.893G>A | XP_011524913.1:p.Arg298His | |
| XM_017026467.1:c.848G>A | XP_016881956.1:p.Arg283His | |
| XR_001753633.2:n.1018G>A | ||
| XR_001753634.2:n.1018G>A | ||
| NM_000400.4:c.971G>A MANE Select | NP_000391.1:p.Arg324His | |
| NM_001130867.2:c.899G>A | NP_001124339.1:p.Arg300His |