Linked Data
ClinVar Variation Id:
88848
ClinVar RCV Id:
RCV000074436
dbSNP Id:
rs398122361
PubMed:
PMID:23704329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116431086C>T , CM000668.2:g.116431086C>T | GRCh38 |
| NC_000006.11:g.116752249C>T , CM000668.1:g.116752249C>T | GRCh37 |
| NC_000006.10:g.116858942C>T | NCBI36 |
| NG_033266.1:g.155967C>T | |
| NG_033266.3:g.181935C>T | |
| NG_033266.4:g.181916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359564.3:c.803C>T | ENSP00000352567.3:p.Ser268Leu | |
| ENST00000644252.3:c.803C>T MANE Select | ENSP00000494147.2:p.Ser268Leu | |
| ENST00000644499.1:c.659C>T | ENSP00000495266.1:p.Ser220Leu | |
| ENST00000646710.1:c.670+4259C>T | ENSP00000495970.1:n.670+4259C>T | |
| ENST00000647244.1:c.670+4259C>T | ENSP00000495184.1:n.670+4259C>T | |
| ENST00000331677.7:c.803C>T | ENSP00000332151.2:p.Ser268Leu | |
| ENST00000359564.2:c.803C>T | ENSP00000352567.2:p.Ser268Leu | |
| ENST00000452085.7:c.803C>T | ENSP00000404049.2:p.Ser268Leu | |
| NM_001080976.1:c.803C>T | NP_001074445.1:p.Ser268Leu | |
| NM_013352.2:c.803C>T | NP_037484.1:p.Ser268Leu | |
| XM_011535785.1:c.83+4259C>T | XP_011534087.1:n.83+4259C>T | |
| NM_001080976.2:c.803C>T | NP_001074445.1:p.Ser268Leu | |
| NM_001322937.1:c.803C>T | NP_001309866.1:p.Ser268Leu | |
| NM_001322938.1:c.803C>T | NP_001309867.1:p.Ser268Leu | |
| NM_001322939.1:c.860C>T | NP_001309868.1:p.Ser287Leu | |
| NM_001322940.1:c.242C>T | NP_001309869.1:p.Ser81Leu | |
| NM_001322941.1:c.242C>T | NP_001309870.1:p.Ser81Leu | |
| NM_001322943.1:c.670+4259C>T | NP_001309872.1:n.670+4259C>T | |
| NM_001322944.1:c.803C>T | NP_001309873.1:p.Ser268Leu | |
| NM_013352.3:c.803C>T | NP_037484.1:p.Ser268Leu | |
| NR_136524.1:n.1050C>T | ||
| XM_017010795.1:c.860C>T | XP_016866284.1:p.Ser287Leu | |
| XM_017010796.1:c.803C>T | XP_016866285.1:p.Ser268Leu | |
| XM_017010797.1:c.860C>T | XP_016866286.1:p.Ser287Leu | |
| NM_001080976.3:c.803C>T | NP_001074445.1:p.Ser268Leu | |
| NM_001322937.2:c.803C>T | NP_001309866.1:p.Ser268Leu | |
| NM_001322938.2:c.803C>T | NP_001309867.1:p.Ser268Leu | |
| NM_001322939.2:c.860C>T | NP_001309868.1:p.Ser287Leu | |
| NM_001322940.2:c.242C>T | NP_001309869.1:p.Ser81Leu | |
| NM_001322941.2:c.242C>T | NP_001309870.1:p.Ser81Leu | |
| NM_001322943.2:c.670+4259C>T | NP_001309872.1:n.670+4259C>T | |
| NM_001322944.2:c.803C>T | NP_001309873.1:p.Ser268Leu | |
| NM_001374520.1:c.-90+29C>T | NP_001361449.1:n.-90+29C>T | |
| NM_001374521.1:c.83+4259C>T | NP_001361450.1:n.83+4259C>T | |
| NM_001374522.1:c.803C>T | NP_001361451.1:p.Ser268Leu | |
| NM_013352.4:c.803C>T MANE Select | NP_037484.1:p.Ser268Leu | |
| NR_136524.2:n.1027C>T |