Linked Data
dbSNP Id:
rs375633418
gnomAD v2:
12-351804-C-A
gnomAD v3:
12-242638-C-A
gnomAD v4:
12-242638-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.242638C>A , CM000674.2:g.242638C>A | GRCh38 |
| NC_000012.11:g.351804C>A , CM000674.1:g.351804C>A | GRCh37 |
| NC_000012.10:g.222065C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343164.9:c.454G>T MANE Select | ENSP00000339260.4:p.Gly152Cys | |
| ENST00000343164.8:c.454G>T | ENSP00000339260.4:p.Gly152Cys | |
| ENST00000445055.6:c.203-4628G>T | ENSP00000407104.2:n.203-4628G>T | |
| ENST00000536842.5:n.507G>T | ||
| ENST00000539260.1:c.*93G>T | ENSP00000437386.1:n.*93G>T | |
| ENST00000542272.5:c.97G>T | ENSP00000443466.1:p.Gly33Cys | |
| ENST00000546319.5:c.203-4628G>T | ENSP00000444606.1:n.203-4628G>T | |
| NM_001190997.2:c.203-4628G>T | NP_001177926.1:n.203-4628G>T | |
| NM_016615.4:c.454G>T | NP_057699.2:p.Gly152Cys | |
| XM_005253749.2:c.520G>T | XP_005253806.1:p.Gly174Cys | |
| XM_011521012.1:c.97G>T | XP_011519314.1:p.Gly33Cys | |
| XM_011521013.1:c.-206G>T | XP_011519315.1:n.-206G>T | |
| XM_011521014.1:c.-206G>T | XP_011519316.1:n.-206G>T | |
| XM_011521012.2:c.97G>T | XP_011519314.1:p.Gly33Cys | |
| XM_017019844.1:c.454G>T | XP_016875333.1:p.Gly152Cys | |
| XM_017019846.1:c.454G>T | XP_016875335.1:p.Gly152Cys | |
| XM_017019847.1:c.454G>T | XP_016875336.1:p.Gly152Cys | |
| XR_001748849.1:n.507G>T | ||
| XR_002957372.1:n.507G>T | ||
| NM_016615.5:c.454G>T MANE Select | NP_057699.2:p.Gly152Cys | |
| NM_001190997.3:c.203-4628G>T | NP_001177926.1:n.203-4628G>T |