Linked Data
ClinVar Variation Id:
41353
dbSNP Id:
rs312262785
ExAC:
15:44858195 G / A
gnomAD v2:
15-44858195-G-A
gnomAD v3:
15-44565997-G-A
gnomAD v4:
15-44565997-G-A
COSMIC:
COSM962113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44565997G>A , CM000677.2:g.44565997G>A | GRCh38 |
| NC_000015.9:g.44858195G>A , CM000677.1:g.44858195G>A | GRCh37 |
| NC_000015.8:g.42645487G>A | NCBI36 |
| NG_008885.1:g.102682C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.547C>T | ENSP00000453314.2:p.Arg183Ter | |
| ENST00000559511.6:c.6379C>T | ENSP00000453246.2:p.Arg2127Ter | |
| ENST00000682065.1:c.6712C>T | ENSP00000507025.1:p.Arg2238Ter | |
| ENST00000682460.1:c.*3113C>T | ENSP00000508334.1:n.*3113C>T | |
| ENST00000682495.1:c.*3348C>T | ENSP00000507166.1:n.*3348C>T | |
| ENST00000682669.1:c.6655C>T | ENSP00000507782.1:p.Arg2219Ter | |
| ENST00000683186.1:c.*3619C>T | ENSP00000507268.1:n.*3619C>T | |
| ENST00000683496.1:c.*498C>T | ENSP00000506968.1:n.*498C>T | |
| ENST00000683734.1:c.*806C>T | ENSP00000508319.1:n.*806C>T | |
| ENST00000683753.1:n.5902C>T | ||
| ENST00000684038.1:c.*3276C>T | ENSP00000507141.1:n.*3276C>T | |
| ENST00000684235.1:c.6856C>T | ENSP00000508295.1:p.Arg2286Ter | |
| ENST00000261866.12:c.6856C>T MANE Select | ENSP00000261866.7:p.Arg2286Ter | |
| ENST00000261866.11:c.6856C>T | ENSP00000261866.7:p.Arg2286Ter | |
| ENST00000427534.6:c.6754+1427C>T | ENSP00000396110.2:n.6754+1427C>T | |
| ENST00000535302.6:c.6517C>T | ENSP00000445278.2:p.Arg2173Ter | |
| ENST00000558138.1:c.547C>T | ENSP00000453314.1:p.Arg183Ter | |
| ENST00000559347.1:n.685C>T | ||
| ENST00000559511.5:c.1227C>T | ||
| ENST00000560299.1:n.148C>T | ||
| NM_001160227.1:c.6517C>T | NP_001153699.1:p.Arg2173Ter | |
| NM_025137.3:c.6856C>T | NP_079413.3:p.Arg2286Ter | |
| XM_005254695.3:c.6598C>T | XP_005254752.1:p.Arg2200Ter | |
| XM_006720700.1:c.6712C>T | XP_006720763.1:p.Arg2238Ter | |
| XM_017022634.1:c.6748C>T | XP_016878123.1:p.Arg2250Ter | |
| XM_017022636.1:c.3733C>T | XP_016878125.1:p.Arg1245Ter | |
| NM_025137.4:c.6856C>T MANE Select | NP_079413.3:p.Arg2286Ter | |
| NM_001160227.2:c.6517C>T | NP_001153699.1:p.Arg2173Ter |