Linked Data
ClinVar Variation Id:
543165
ClinVar RCV Id:
RCV000653833
dbSNP Id:
rs1554337983
gnomAD v4:
7-30609667-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30609667C>T , CM000669.2:g.30609667C>T | GRCh38 |
| NC_000007.13:g.30649283C>T , CM000669.1:g.30649283C>T | GRCh37 |
| NC_000007.12:g.30615808C>T | NCBI36 |
| NG_007942.1:g.20103C>T , LRG_243:g.20103C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.818C>T MANE Select | ENSP00000373918.3:p.Ser273Phe | |
| ENST00000444666.6:c.818C>T | ENSP00000415447.2:p.Ser273Phe | |
| ENST00000470392.2:n.908C>T | ||
| ENST00000478124.6:n.881C>T | ||
| ENST00000485784.2:n.897C>T | ||
| ENST00000674616.1:c.*532C>T | ENSP00000502408.1:n.*532C>T | |
| ENST00000674643.1:c.818C>T | ENSP00000501636.1:p.Ser273Phe | |
| ENST00000674734.1:n.1314C>T | ||
| ENST00000674737.1:c.*156C>T | ENSP00000502464.1:n.*156C>T | |
| ENST00000674807.1:c.818C>T | ENSP00000502814.1:p.Ser273Phe | |
| ENST00000674815.1:c.449C>T | ENSP00000502799.1:p.Ser150Phe | |
| ENST00000674851.1:c.449C>T | ENSP00000502451.1:p.Ser150Phe | |
| ENST00000674969.1:n.2691C>T | ||
| ENST00000675051.1:c.617C>T | ENSP00000502296.1:p.Ser206Phe | |
| ENST00000675529.1:c.*688C>T | ENSP00000501655.1:n.*688C>T | |
| ENST00000675587.1:n.834C>T | ||
| ENST00000675651.1:c.818C>T | ENSP00000502513.1:p.Ser273Phe | |
| ENST00000675693.1:c.650C>T | ENSP00000502174.1:p.Ser217Phe | |
| ENST00000675810.1:c.716C>T | ENSP00000502743.1:p.Ser239Phe | |
| ENST00000675859.1:c.818C>T | ENSP00000502033.1:p.Ser273Phe | |
| ENST00000675863.1:n.826C>T | ||
| ENST00000675886.1:n.6858C>T | ||
| ENST00000676088.1:c.*760C>T | ENSP00000501884.1:n.*760C>T | |
| ENST00000676140.1:c.818C>T | ENSP00000502571.1:p.Ser273Phe | |
| ENST00000676164.1:c.*269C>T | ENSP00000501986.1:n.*269C>T | |
| ENST00000676210.1:c.*107C>T | ENSP00000502373.1:n.*107C>T | |
| ENST00000676259.1:c.*250C>T | ENSP00000501980.1:n.*250C>T | |
| ENST00000676403.1:c.818C>T | ENSP00000502681.1:p.Ser273Phe | |
| ENST00000389266.7:c.818C>T | ENSP00000373918.3:p.Ser273Phe | |
| ENST00000478124.5:n.856C>T | ||
| NM_001316772.1:c.656C>T | NP_001303701.1:p.Ser219Phe | |
| NM_002047.2:c.818C>T , LRG_243t1:c.818C>T | NP_002038.2:p.Ser273Phe | |
| NM_002047.3:c.818C>T | NP_002038.2:p.Ser273Phe | |
| XM_006715686.1:c.449C>T | XP_006715749.1:p.Ser150Phe | |
| XM_006715686.2:c.449C>T | XP_006715749.1:p.Ser150Phe | |
| NM_002047.4:c.818C>T MANE Select | NP_002038.2:p.Ser273Phe |