Linked Data
ClinVar Variation Id:
447371
dbSNP Id:
rs370057212
ExAC:
7:30655651 C / T
gnomAD v2:
7-30655651-C-T
gnomAD v3:
7-30616035-C-T
gnomAD v4:
7-30616035-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30616035C>T , CM000669.2:g.30616035C>T | GRCh38 |
| NC_000007.13:g.30655651C>T , CM000669.1:g.30655651C>T | GRCh37 |
| NC_000007.12:g.30622176C>T | NCBI36 |
| NG_007942.1:g.26471C>T , LRG_243:g.26471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1171C>T MANE Select | ENSP00000373918.3:p.Arg391Cys | |
| ENST00000444666.6:c.1171C>T | ENSP00000415447.2:p.Arg391Cys | |
| ENST00000470392.2:n.1261C>T | ||
| ENST00000478124.6:n.1234C>T | ||
| ENST00000485784.2:n.1250C>T | ||
| ENST00000674616.1:c.*885C>T | ENSP00000502408.1:n.*885C>T | |
| ENST00000674643.1:c.*271C>T | ENSP00000501636.1:n.*271C>T | |
| ENST00000674734.1:n.1667C>T | ||
| ENST00000674737.1:c.*509C>T | ENSP00000502464.1:n.*509C>T | |
| ENST00000674807.1:c.1171C>T | ENSP00000502814.1:p.Arg391Cys | |
| ENST00000674815.1:c.802C>T | ENSP00000502799.1:p.Arg268Cys | |
| ENST00000674851.1:c.802C>T | ENSP00000502451.1:p.Arg268Cys | |
| ENST00000674969.1:n.3044C>T | ||
| ENST00000675051.1:c.970C>T | ENSP00000502296.1:p.Arg324Cys | |
| ENST00000675529.1:c.*1041C>T | ENSP00000501655.1:n.*1041C>T | |
| ENST00000675587.1:n.1187C>T | ||
| ENST00000675651.1:c.1171C>T | ENSP00000502513.1:p.Arg391Cys | |
| ENST00000675693.1:c.1003C>T | ENSP00000502174.1:p.Arg335Cys | |
| ENST00000675810.1:c.1069C>T | ENSP00000502743.1:p.Arg357Cys | |
| ENST00000675859.1:c.1171C>T | ENSP00000502033.1:p.Arg391Cys | |
| ENST00000675863.1:n.1179C>T | ||
| ENST00000675886.1:n.7211C>T | ||
| ENST00000676088.1:c.*1113C>T | ENSP00000501884.1:n.*1113C>T | |
| ENST00000676140.1:c.*116C>T | ENSP00000502571.1:n.*116C>T | |
| ENST00000676164.1:c.*622C>T | ENSP00000501986.1:n.*622C>T | |
| ENST00000676210.1:c.*460C>T | ENSP00000502373.1:n.*460C>T | |
| ENST00000676259.1:c.*603C>T | ENSP00000501980.1:n.*603C>T | |
| ENST00000676403.1:c.1171C>T | ENSP00000502681.1:p.Arg391Cys | |
| ENST00000389266.7:c.1171C>T | ENSP00000373918.3:p.Arg391Cys | |
| ENST00000478124.5:n.1209C>T | ||
| ENST00000484093.1:n.170C>T | ||
| NM_001316772.1:c.1009C>T | NP_001303701.1:p.Arg337Cys | |
| NM_002047.2:c.1171C>T , LRG_243t1:c.1171C>T | NP_002038.2:p.Arg391Cys | |
| NM_002047.3:c.1171C>T | NP_002038.2:p.Arg391Cys | |
| XM_006715686.1:c.802C>T | XP_006715749.1:p.Arg268Cys | |
| XM_006715686.2:c.802C>T | XP_006715749.1:p.Arg268Cys | |
| NM_002047.4:c.1171C>T MANE Select | NP_002038.2:p.Arg391Cys |