Linked Data
ClinVar Variation Id:
254159
ClinVar RCV Id:
RCV000240629
dbSNP Id:
rs886037906
gnomAD v4:
11-2445447-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445447C>T , CM000673.2:g.2445447C>T | GRCh38 |
| NC_000011.9:g.2466677C>T , CM000673.1:g.2466677C>T | GRCh37 |
| NC_000011.8:g.2423253C>T | NCBI36 |
| NG_008935.1:g.5457C>T , LRG_287:g.5457C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.88C>T | ENSP00000434560.2:p.Pro30Ser | |
| ENST00000646564.2:c.349C>T | ENSP00000495806.2:p.Pro117Ser | |
| ENST00000155840.12:c.349C>T MANE Select | ENSP00000155840.2:p.Pro117Ser | |
| ENST00000155840.9:c.349C>T | ENSP00000155840.2:p.Pro117Ser | |
| ENST00000345015.4:n.126C>T | ||
| ENST00000496887.6:c.88C>T | ENSP00000434560.1:p.Pro30Ser | |
| NM_000218.2:c.349C>T , LRG_287t1:c.349C>T | NP_000209.2:p.Pro117Ser | |
| NM_000218.3:c.349C>T MANE Select | NP_000209.2:p.Pro117Ser |