Linked Data
ClinVar Variation Id:
3131
ClinVar RCV Id:
RCV000003279
RCV000148548
RCV000182196
RCV000251958
RCV000515748
RCV000614524
RCV000779058
RCV000999897
RCV001256915
RCV001841226
RCV001847566
dbSNP Id:
rs17215500
ExAC:
11:2790111 C / T
gnomAD v2:
11-2790111-C-T
gnomAD v3:
11-2768881-C-T
gnomAD v4:
11-2768881-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768881C>T , CM000673.2:g.2768881C>T | GRCh38 |
| NC_000011.9:g.2790111C>T , CM000673.1:g.2790111C>T | GRCh37 |
| NC_000011.8:g.2746687C>T | NCBI36 |
| NG_008935.1:g.328891C>T , LRG_287:g.328891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1195C>T | ENSP00000434560.2:p.Arg399Ter | |
| ENST00000646564.2:c.1012C>T | ENSP00000495806.2:p.Arg338Ter | |
| ENST00000155840.12:c.1552C>T MANE Select | ENSP00000155840.2:p.Arg518Ter | |
| ENST00000335475.6:c.1171C>T | ENSP00000334497.5:p.Arg391Ter | |
| ENST00000646564.1:c.658C>T | ENSP00000495806.1:p.Arg220Ter | |
| ENST00000155840.9:c.1552C>T | ENSP00000155840.2:p.Arg518Ter | |
| ENST00000335475.5:c.1171C>T | ENSP00000334497.5:p.Arg391Ter | |
| NM_000218.2:c.1552C>T , LRG_287t1:c.1552C>T | NP_000209.2:p.Arg518Ter | |
| NM_181798.1:c.1171C>T , LRG_287t2:c.1171C>T | NP_861463.1:p.Arg391Ter | |
| NM_000218.3:c.1552C>T MANE Select | NP_000209.2:p.Arg518Ter |