Linked Data
ClinVar Variation Id:
16224
dbSNP Id:
rs121909668
gnomAD v2:
16-31202739-C-T
gnomAD v3:
16-31191418-C-T
gnomAD v4:
16-31191418-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31191418C>T , CM000678.2:g.31191418C>T | GRCh38 |
| NC_000016.9:g.31202739C>T , CM000678.1:g.31202739C>T | GRCh37 |
| NC_000016.8:g.31110240C>T | NCBI36 |
| NG_012889.2:g.16287C>T , LRG_655:g.16287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.1561C>T MANE Select | ENSP00000254108.8:p.Arg521Cys | |
| ENST00000254108.11:c.1561C>T | ENSP00000254108.7:p.Arg521Cys | |
| ENST00000380244.7:c.1558C>T | ENSP00000369594.3:p.Arg520Cys | |
| ENST00000483853.1:n.638C>T | ||
| ENST00000487509.6:n.4736C>T | ||
| ENST00000566605.5:c.*734C>T | ENSP00000455073.1:n.*734C>T | |
| ENST00000568685.1:c.1564C>T | ENSP00000455282.1:p.Arg522Cys | |
| ENST00000569760.5:n.452C>T | ||
| NM_001170634.1:c.1558C>T | NP_001164105.1:p.Arg520Cys | |
| NM_001170937.1:c.1549C>T | NP_001164408.1:p.Arg517Cys | |
| NM_004960.3:c.1561C>T , LRG_655t1:c.1561C>T | NP_004951.1:p.Arg521Cys | |
| NR_028388.2:n.1631C>T | ||
| XM_005255233.3:c.946C>T | XP_005255290.1:p.Arg316Cys | |
| XM_011545781.1:c.1555C>T | XP_011544083.1:p.Arg519Cys | |
| XM_011545782.1:c.946C>T | XP_011544084.1:p.Arg316Cys | |
| XM_005255233.5:c.946C>T | XP_005255290.1:p.Arg316Cys | |
| XM_011545782.2:c.946C>T | XP_011544084.1:p.Arg316Cys | |
| XM_024450221.1:c.1552C>T | XP_024305989.1:p.Arg518Cys | |
| NM_004960.4:c.1561C>T MANE Select | NP_004951.1:p.Arg521Cys |