Linked Data
ClinVar Variation Id:
214834
dbSNP Id:
rs11551664
ExAC:
19:1390984 C / T
gnomAD v2:
19-1390984-C-T
gnomAD v3:
19-1390985-C-T
gnomAD v4:
19-1390985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1390985C>T , CM000681.2:g.1390985C>T | GRCh38 |
| NC_000019.9:g.1390984C>T , CM000681.1:g.1390984C>T | GRCh37 |
| NC_000019.8:g.1341984C>T | NCBI36 |
| NG_008283.1:g.12102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233627.14:c.343C>T MANE Select | ENSP00000233627.9:p.Arg115Cys | |
| ENST00000233627.13:c.343C>T | ENSP00000233627.9:p.Arg115Cys | |
| ENST00000313408.11:c.343C>T | ENSP00000364262.5:p.Arg115Cys | |
| ENST00000414651.3:c.433C>T | ENSP00000406630.2:p.Arg145Cys | |
| ENST00000436115.6:n.2298C>T | ||
| ENST00000534853.5:c.*137C>T | ENSP00000442822.1:n.*137C>T | |
| ENST00000535382.1:n.595C>T | ||
| ENST00000538523.5:n.399C>T | ||
| ENST00000538662.5:n.370C>T | ||
| ENST00000538929.5:n.433C>T | ||
| ENST00000539480.5:c.343C>T | ENSP00000443273.1:p.Arg115Cys | |
| ENST00000540530.5:n.334C>T | ||
| ENST00000543289.5:n.833C>T | ||
| ENST00000545446.5:n.634C>T | ||
| ENST00000546172.7:c.*339C>T | ENSP00000467094.1:n.*339C>T | |
| ENST00000546283.5:c.343C>T | ENSP00000440348.1:p.Arg115Cys | |
| ENST00000618074.4:c.343C>T | ENSP00000477895.1:p.Arg115Cys | |
| ENST00000620479.4:c.343C>T | ENSP00000480984.1:p.Arg115Cys | |
| ENST00000622587.4:n.339C>T | ||
| NM_024407.4:c.343C>T | NP_077718.3:p.Arg115Cys | |
| XM_005259556.3:c.343C>T | XP_005259613.2:p.Arg115Cys | |
| NM_001363602.1:c.343C>T | NP_001350531.1:p.Arg115Cys | |
| XM_024451499.1:c.364C>T | XP_024307267.1:p.Arg122Cys | |
| NM_024407.5:c.343C>T MANE Select | NP_077718.3:p.Arg115Cys | |
| NM_001363602.2:c.343C>T | NP_001350531.1:p.Arg115Cys |