Linked Data
ClinVar Variation Id:
52946
ClinVar RCV Id:
RCV000045950
RCV000182167
RCV000678957
RCV001258105
RCV002408545
RCV003155055
RCV004017346
dbSNP Id:
rs397508072
gnomAD v4:
11-2585245-C-T
PubMed:
PMID:10973849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585245C>T , CM000673.2:g.2585245C>T | GRCh38 |
| NC_000011.9:g.2606475C>T , CM000673.1:g.2606475C>T | GRCh37 |
| NC_000011.8:g.2563051C>T | NCBI36 |
| NG_008935.1:g.145255C>T , LRG_287:g.145255C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+1700C>T | ENSP00000434560.2:n.771+1700C>T | |
| ENST00000646564.2:c.588+1700C>T | ENSP00000495806.2:n.588+1700C>T | |
| ENST00000155840.12:c.1066C>T MANE Select | ENSP00000155840.2:p.Gln356Ter | |
| ENST00000335475.6:c.685C>T | ENSP00000334497.5:p.Gln229Ter | |
| ENST00000646564.1:c.234+1700C>T | ENSP00000495806.1:n.234+1700C>T | |
| ENST00000155840.9:c.1066C>T | ENSP00000155840.2:p.Gln356Ter | |
| ENST00000335475.5:c.685C>T | ENSP00000334497.5:p.Gln229Ter | |
| NM_000218.2:c.1066C>T , LRG_287t1:c.1066C>T | NP_000209.2:p.Gln356Ter | |
| NM_181798.1:c.685C>T , LRG_287t2:c.685C>T | NP_861463.1:p.Gln229Ter | |
| NM_000218.3:c.1066C>T MANE Select | NP_000209.2:p.Gln356Ter |