Linked Data
ClinVar Variation Id:
1938
dbSNP Id:
rs33939927
ExAC:
12:40704236 C / T
gnomAD v2:
12-40704236-C-T
gnomAD v3:
12-40310434-C-T
gnomAD v4:
12-40310434-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40310434C>T , CM000674.2:g.40310434C>T | GRCh38 |
| NC_000012.11:g.40704236C>T , CM000674.1:g.40704236C>T | GRCh37 |
| NC_000012.10:g.38990503C>T | NCBI36 |
| NG_011709.1:g.90424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.4321C>T MANE Select | ENSP00000298910.7:p.Arg1441Cys | |
| ENST00000679360.1:c.*3230C>T | ENSP00000505368.1:n.*3230C>T | |
| ENST00000680790.1:c.4066C>T | ENSP00000505335.1:p.Arg1356Cys | |
| ENST00000681696.1:c.4C>T | ENSP00000505871.1:p.Arg2Cys | |
| ENST00000298910.11:c.4321C>T | ENSP00000298910.7:p.Arg1441Cys | |
| ENST00000430804.5:c.1617C>T | ||
| ENST00000479187.5:n.1002C>T | ||
| NM_198578.3:c.4321C>T | NP_940980.3:p.Arg1441Cys | |
| XM_005268629.2:c.4321C>T | XP_005268686.1:p.Arg1441Cys | |
| XM_011537877.1:c.4321C>T | XP_011536179.1:p.Arg1441Cys | |
| XM_011537878.1:c.4321C>T | XP_011536180.1:p.Arg1441Cys | |
| XM_011537879.1:c.3118C>T | XP_011536181.1:p.Arg1040Cys | |
| XM_011537880.1:c.4321C>T | XP_011536182.1:p.Arg1441Cys | |
| XM_011537881.1:c.4321C>T | XP_011536183.1:p.Arg1441Cys | |
| XM_005268629.4:c.4321C>T | XP_005268686.1:p.Arg1441Cys | |
| XM_011537877.3:c.4321C>T | XP_011536179.1:p.Arg1441Cys | |
| XM_011537881.3:c.4321C>T | XP_011536183.1:p.Arg1441Cys | |
| XM_017018786.2:c.4321C>T | XP_016874275.1:p.Arg1441Cys | |
| XM_017018787.1:c.1237C>T | XP_016874276.1:p.Arg413Cys | |
| XM_017018788.2:c.583C>T | XP_016874277.1:p.Arg195Cys | |
| XM_024448833.1:c.3118C>T | XP_024304601.1:p.Arg1040Cys | |
| XR_001748574.2:n.4563C>T | ||
| NM_198578.4:c.4321C>T MANE Select | NP_940980.4:p.Arg1441Cys |