Linked Data
ClinVar Variation Id:
2683979
dbSNP Id:
rs963668412
gnomAD v2:
3-93646206-C-T
gnomAD v3:
3-93927362-C-T
gnomAD v4:
3-93927362-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93927362C>T , CM000665.2:g.93927362C>T | GRCh38 |
| NC_000003.11:g.93646206C>T , CM000665.1:g.93646206C>T | GRCh37 |
| NC_000003.10:g.95128896C>T | NCBI36 |
| NG_009813.1:g.51729G>A , LRG_572:g.51729G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.122G>A | ENSP00000330021.7:p.Arg41His | |
| ENST00000394236.9:c.122G>A MANE Select | ENSP00000377783.3:p.Arg41His | |
| ENST00000407433.6:c.122G>A | ENSP00000385794.2:p.Arg41His | |
| ENST00000472684.2:c.-272G>A | ENSP00000419616.2:n.-272G>A | |
| ENST00000647936.1:c.122G>A | ENSP00000496822.1:p.Arg41His | |
| ENST00000648381.1:n.290G>A | ||
| ENST00000648853.1:c.80G>A | ENSP00000497262.1:p.Arg27His | |
| ENST00000649103.1:c.101G>A | ENSP00000497962.1:p.Arg34His | |
| ENST00000650591.1:c.218G>A | ENSP00000497376.1:p.Arg73His | |
| ENST00000348974.4:c.218G>A | ENSP00000330021.6:p.Arg73His | |
| ENST00000394236.7:c.122G>A | ENSP00000377783.3:p.Arg41His | |
| ENST00000407433.5:c.-272G>A | ENSP00000385794.1:n.-272G>A | |
| ENST00000472684.1:c.-272G>A | ENSP00000419616.1:n.-272G>A | |
| NM_000313.3:c.122G>A , LRG_572t1:c.122G>A | NP_000304.2:p.Arg41His | |
| NM_001314077.1:c.218G>A , LRG_572t2:c.218G>A | NP_001301006.1:p.Arg73His | |
| NM_000313.4:c.122G>A MANE Select | NP_000304.2:p.Arg41His | |
| NM_001314077.2:c.218G>A | NP_001301006.1:p.Arg73His |