Linked Data
ClinVar Variation Id:
263987
dbSNP Id:
rs753621331
gnomAD v2:
2-189868847-C-T
gnomAD v4:
2-189004121-C-T
COSMIC:
COSM3575408
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189004121C>T , CM000664.2:g.189004121C>T | GRCh38 |
| NC_000002.11:g.189868847C>T , CM000664.1:g.189868847C>T | GRCh37 |
| NC_000002.10:g.189577092C>T | NCBI36 |
| NG_007404.1:g.34749C>T , LRG_3:g.34749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2702C>T | ENSP00000415346.2:p.Ser901Leu | |
| ENST00000304636.9:c.2801C>T MANE Select | ENSP00000304408.4:p.Ser934Leu | |
| ENST00000304636.7:c.2801C>T | ENSP00000304408.3:p.Ser934Leu | |
| ENST00000317840.9:c.2527+1085C>T | ENSP00000315243.6:n.2527+1085C>T | |
| NM_000090.3:c.2801C>T , LRG_3t1:c.2801C>T | NP_000081.1:p.Ser934Leu | |
| NM_000090.4:c.2801C>T MANE Select | NP_000081.2:p.Ser934Leu |