Linked Data
ClinVar Variation Id:
52996
ClinVar RCV Id:
RCV000046003
RCV000182204
RCV000619891
RCV000515204
RCV001029805
RCV001841634
RCV001847642
RCV004528255
dbSNP Id:
rs397508097
ExAC:
11:2790147 C / T
gnomAD v2:
11-2790147-C-T
gnomAD v3:
11-2768917-C-T
gnomAD v4:
11-2768917-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768917C>T , CM000673.2:g.2768917C>T | GRCh38 |
| NC_000011.9:g.2790147C>T , CM000673.1:g.2790147C>T | GRCh37 |
| NC_000011.8:g.2746723C>T | NCBI36 |
| NG_008935.1:g.328927C>T , LRG_287:g.328927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1231C>T | ENSP00000434560.2:p.Gln411Ter | |
| ENST00000646564.2:c.1048C>T | ENSP00000495806.2:p.Gln350Ter | |
| ENST00000155840.12:c.1588C>T MANE Select | ENSP00000155840.2:p.Gln530Ter | |
| ENST00000335475.6:c.1207C>T | ENSP00000334497.5:p.Gln403Ter | |
| ENST00000646564.1:c.694C>T | ENSP00000495806.1:p.Gln232Ter | |
| ENST00000155840.9:c.1588C>T | ENSP00000155840.2:p.Gln530Ter | |
| ENST00000335475.5:c.1207C>T | ENSP00000334497.5:p.Gln403Ter | |
| NM_000218.2:c.1588C>T , LRG_287t1:c.1588C>T | NP_000209.2:p.Gln530Ter | |
| NM_181798.1:c.1207C>T , LRG_287t2:c.1207C>T | NP_861463.1:p.Gln403Ter | |
| NM_000218.3:c.1588C>T MANE Select | NP_000209.2:p.Gln530Ter |