Linked Data
ClinVar Variation Id:
458626
dbSNP Id:
rs148770894
ExAC:
2:203421044 C / T
gnomAD v2:
2-203421044-C-T
gnomAD v3:
2-202556321-C-T
gnomAD v4:
2-202556321-C-T
ERepo:
CA2061559/MONDO:0015924/125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202556321C>T , CM000664.2:g.202556321C>T | GRCh38 |
| NC_000002.11:g.203421044C>T , CM000664.1:g.203421044C>T | GRCh37 |
| NC_000002.10:g.203129289C>T | NCBI36 |
| NG_009363.1:g.184995C>T , LRG_712:g.184995C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.2656C>T MANE Select | ENSP00000363708.4:p.Arg886Cys | |
| ENST00000638587.1:c.2587C>T | ENSP00000491062.1:n.2587C>T | |
| ENST00000374574.2:c.1587-3375C>T | ENSP00000363702.2:n.1587-3375C>T | |
| ENST00000374580.8:c.2656C>T | ENSP00000363708.4:p.Arg886Cys | |
| NM_001204.6:c.2656C>T , LRG_712t1:c.2656C>T | NP_001195.2:p.Arg886Cys | |
| XM_011511687.1:c.2656C>T | XP_011509989.1:p.Arg886Cys | |
| XM_011511688.1:c.1587-3375C>T | XP_011509990.1:n.1587-3375C>T | |
| NM_001204.7:c.2656C>T MANE Select | NP_001195.2:p.Arg886Cys |