Linked Data
ClinVar Variation Id:
53083
ClinVar RCV Id:
RCV000046103
RCV000057730
RCV000182302
RCV001256914
RCV002504939
RCV001841649
RCV003335079
RCV002362677
dbSNP Id:
rs199473456
ExAC:
11:2592624 C / T
gnomAD v2:
11-2592624-C-T
gnomAD v4:
11-2571394-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2571394C>T , CM000673.2:g.2571394C>T | GRCh38 |
| NC_000011.9:g.2592624C>T , CM000673.1:g.2592624C>T | GRCh37 |
| NC_000011.8:g.2549200C>T | NCBI36 |
| NG_008935.1:g.131404C>T , LRG_287:g.131404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.413C>T | ENSP00000434560.2:p.Ser138Leu | |
| ENST00000646564.2:c.478-12041C>T | ENSP00000495806.2:n.478-12041C>T | |
| ENST00000155840.12:c.674C>T MANE Select | ENSP00000155840.2:p.Ser225Leu | |
| ENST00000335475.6:c.293C>T | ENSP00000334497.5:p.Ser98Leu | |
| ENST00000646564.1:c.124-12041C>T | ENSP00000495806.1:n.124-12041C>T | |
| ENST00000155840.9:c.674C>T | ENSP00000155840.2:p.Ser225Leu | |
| ENST00000335475.5:c.293C>T | ENSP00000334497.5:p.Ser98Leu | |
| ENST00000496887.6:c.413C>T | ENSP00000434560.1:p.Ser138Leu | |
| NM_000218.2:c.674C>T , LRG_287t1:c.674C>T | NP_000209.2:p.Ser225Leu | |
| NM_181798.1:c.293C>T , LRG_287t2:c.293C>T | NP_861463.1:p.Ser98Leu | |
| NM_000218.3:c.674C>T MANE Select | NP_000209.2:p.Ser225Leu |