Linked Data
ClinVar Variation Id:
53028
ClinVar RCV Id:
RCV000057653
RCV000495985
RCV000454712
RCV001305107
RCV002483050
RCV004018946
RCV002223779
dbSNP Id:
rs199473443
gnomAD v2:
11-2466347-C-T
gnomAD v3:
11-2445117-C-T
gnomAD v4:
11-2445117-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445117C>T , CM000673.2:g.2445117C>T | GRCh38 |
| NC_000011.9:g.2466347C>T , CM000673.1:g.2466347C>T | GRCh37 |
| NC_000011.8:g.2422923C>T | NCBI36 |
| NG_008935.1:g.5127C>T , LRG_287:g.5127C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.24-266C>T | ENSP00000434560.2:n.24-266C>T | |
| ENST00000646564.2:c.19C>T | ENSP00000495806.2:p.Pro7Ser | |
| ENST00000155840.12:c.19C>T MANE Select | ENSP00000155840.2:p.Pro7Ser | |
| ENST00000155840.9:c.19C>T | ENSP00000155840.2:p.Pro7Ser | |
| ENST00000496887.6:c.24-266C>T | ENSP00000434560.1:n.24-266C>T | |
| NM_000218.2:c.19C>T , LRG_287t1:c.19C>T | NP_000209.2:p.Pro7Ser | |
| NM_000218.3:c.19C>T MANE Select | NP_000209.2:p.Pro7Ser |