Linked Data
ClinVar Variation Id:
31003
dbSNP Id:
rs199473682
gnomAD v4:
17-8228251-G-A
PubMed:
PMID:22387016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8228251G>A , CM000679.2:g.8228251G>A | GRCh38 |
| NC_000017.10:g.8131569G>A , CM000679.1:g.8131569G>A | GRCh37 |
| NC_000017.9:g.8072294G>A | NCBI36 |
| NG_032148.1:g.24845C>T | |
| NG_032148.2:g.24845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.3319C>T | ENSP00000462607.2:p.Arg1107Ter | |
| ENST00000581729.2:c.3352C>T | ENSP00000462720.2:p.Arg1118Ter | |
| ENST00000699849.1:c.2455C>T | ENSP00000514647.1:p.Arg819Ter | |
| ENST00000699850.1:n.3515C>T | ||
| ENST00000699851.1:n.4469C>T | ||
| ENST00000699852.1:c.*2096C>T | ENSP00000514648.1:n.*2096C>T | |
| ENST00000699853.1:c.*168C>T | ENSP00000514649.1:n.*168C>T | |
| ENST00000699854.1:n.4142C>T | ||
| ENST00000699855.1:n.4706C>T | ||
| ENST00000699856.1:c.*534C>T | ENSP00000514650.1:n.*534C>T | |
| ENST00000699857.1:n.4162C>T | ||
| ENST00000699858.1:c.*2867C>T | ENSP00000514651.1:n.*2867C>T | |
| ENST00000699859.1:c.*319C>T | ENSP00000514652.1:n.*319C>T | |
| ENST00000699860.1:n.2261C>T | ||
| ENST00000699861.1:n.4046C>T | ||
| ENST00000449476.7:c.*317C>T | ENSP00000396018.2:n.*317C>T | |
| ENST00000581671.2:n.3572C>T | ||
| ENST00000643543.1:c.*2290C>T | ENSP00000494323.1:n.*2290C>T | |
| ENST00000651323.1:c.3583C>T MANE Select | ENSP00000498499.1:p.Arg1195Ter | |
| ENST00000315684.12:c.3583C>T | ENSP00000313759.8:p.Arg1195Ter | |
| ENST00000449476.6:c.*317C>T | ENSP00000396018.2:n.*317C>T | |
| ENST00000581729.1:c.300C>T | ||
| NM_025099.5:c.3583C>T | NP_079375.3:p.Arg1195Ter | |
| NR_046431.1:n.3472C>T | ||
| XM_006721577.2:c.3454C>T | XP_006721640.1:p.Arg1152Ter | |
| XM_006721578.2:c.3352C>T | XP_006721641.1:p.Arg1118Ter | |
| XM_011524010.1:c.3478C>T | XP_011522312.1:p.Arg1160Ter | |
| XM_011524011.1:c.2686C>T | XP_011522313.1:p.Arg896Ter | |
| XR_429823.2:n.3460C>T | ||
| XR_429824.2:n.3561C>T | ||
| NM_025099.6:c.3583C>T MANE Select | NP_079375.3:p.Arg1195Ter | |
| XM_006721577.3:c.3454C>T | XP_006721640.1:p.Arg1152Ter | |
| XM_006721578.3:c.3352C>T | XP_006721641.1:p.Arg1118Ter | |
| XM_011524010.2:c.3478C>T | XP_011522312.1:p.Arg1160Ter | |
| XM_011524011.2:c.2686C>T | XP_011522313.1:p.Arg896Ter | |
| XR_001752639.1:n.3434C>T | ||
| XR_001752640.1:n.3582C>T | ||
| XR_001752641.1:n.3517C>T | ||
| XR_001752642.1:n.3367C>T | ||
| XR_002958073.1:n.3873C>T | ||
| XR_429823.3:n.3460C>T | ||
| XR_429824.3:n.3561C>T | ||
| NR_046431.2:n.3433C>T |