Linked Data
ClinVar Variation Id:
191178
dbSNP Id:
rs765715798
ExAC:
3:97506846 G / A
gnomAD v2:
3-97506846-G-A
gnomAD v3:
3-97788002-G-A
gnomAD v4:
3-97788002-G-A
COSMIC:
COSM2151836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.97788002G>A , CM000665.2:g.97788002G>A | GRCh38 |
| NC_000003.11:g.97506846G>A , CM000665.1:g.97506846G>A | GRCh37 |
| NC_000003.10:g.98989536G>A | NCBI36 |
| NG_008119.1:g.28252G>A | |
| NG_008119.2:g.28252G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462412.3:c.362G>A | ENSP00000418740.2:p.Arg121His | |
| ENST00000631834.2:c.362G>A | ENSP00000488530.2:p.Arg121His | |
| ENST00000463745.6:c.362G>A MANE Select | ENSP00000419619.1:p.Arg121His | |
| ENST00000335979.6:c.362G>A | ENSP00000337722.2:p.Arg121His | |
| ENST00000394206.5:c.362G>A | ENSP00000377756.1:p.Arg121His | |
| ENST00000462412.2:c.362G>A | ENSP00000418740.1:p.Arg121His | |
| ENST00000463745.5:c.362G>A | ENSP00000419619.1:p.Arg121His | |
| ENST00000476753.1:c.46G>A | ||
| ENST00000493990.5:c.362G>A | ENSP00000418057.1:p.Arg121His | |
| ENST00000496713.1:n.600G>A | ||
| ENST00000631834.1:c.224G>A | ENSP00000488530.1:p.Arg75His | |
| NM_001278293.1:c.362G>A | NP_001265222.1:p.Arg121His | |
| NM_032146.4:c.362G>A | NP_115522.1:p.Arg121His | |
| NM_177976.2:c.362G>A | NP_816931.1:p.Arg121His | |
| NR_103511.1:n.945G>A | ||
| XM_006713779.2:c.362G>A | XP_006713842.1:p.Arg121His | |
| XM_006713783.2:c.362G>A | XP_006713846.1:p.Arg121His | |
| XM_011513230.1:c.362G>A | XP_011511532.1:p.Arg121His | |
| XR_924184.1:n.834G>A | ||
| XR_924185.1:n.940G>A | ||
| XR_924186.1:n.987G>A | ||
| XR_924187.1:n.834G>A | ||
| XR_924188.1:n.888G>A | ||
| XR_924189.1:n.834G>A | ||
| NM_001278293.2:c.362G>A | NP_001265222.1:p.Arg121His | |
| NM_001323513.1:c.362G>A | NP_001310442.1:p.Arg121His | |
| NM_001323514.1:c.362G>A | NP_001310443.1:p.Arg121His | |
| NM_032146.5:c.362G>A | NP_115522.1:p.Arg121His | |
| NM_177976.3:c.362G>A | NP_816931.1:p.Arg121His | |
| NR_136595.1:n.945G>A | ||
| NR_136597.1:n.846G>A | ||
| NR_136598.1:n.850G>A | ||
| NR_136600.1:n.846G>A | ||
| NR_136601.1:n.846G>A | ||
| NR_136602.1:n.846G>A | ||
| XM_017007311.2:c.362G>A | XP_016862800.1:p.Arg121His | |
| XM_017007312.2:c.362G>A | XP_016862801.1:p.Arg121His | |
| XR_001740319.2:n.2786G>A | ||
| XR_001740321.2:n.2786G>A | ||
| XR_002959599.1:n.2845G>A | ||
| XR_924184.3:n.2786G>A | ||
| XR_924185.3:n.2885G>A | ||
| XR_924186.3:n.2944G>A | ||
| XR_924187.3:n.2786G>A | ||
| XR_924188.3:n.2845G>A | ||
| XR_924189.3:n.2786G>A | ||
| NM_001278293.3:c.362G>A MANE Select | NP_001265222.1:p.Arg121His | |
| NM_001323513.2:c.362G>A | NP_001310442.1:p.Arg121His | |
| NM_001323514.2:c.362G>A | NP_001310443.1:p.Arg121His | |
| NR_103511.2:n.708G>A | ||
| NR_136595.2:n.708G>A | ||
| NR_136597.2:n.609G>A | ||
| NR_136598.2:n.613G>A | ||
| NR_136600.2:n.609G>A | ||
| NR_136601.2:n.609G>A | ||
| NR_136602.2:n.609G>A | ||
| NR_103511.3:n.708G>A | ||
| NR_136600.3:n.609G>A | ||
| NR_136601.3:n.609G>A | ||
| NR_136602.3:n.609G>A |