Linked Data
ClinVar Variation Id:
2895668
ClinVar RCV Id:
RCV003633972
dbSNP Id:
rs745746358
ExAC:
2:189872323 C / T
gnomAD v2:
2-189872323-C-T
gnomAD v3:
2-189007597-C-T
gnomAD v4:
2-189007597-C-T
COSMIC:
COSM5934489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189007597C>T , CM000664.2:g.189007597C>T | GRCh38 |
| NC_000002.11:g.189872323C>T , CM000664.1:g.189872323C>T | GRCh37 |
| NC_000002.10:g.189580568C>T | NCBI36 |
| NG_007404.1:g.38225C>T , LRG_3:g.38225C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3254C>T | ENSP00000415346.2:p.Pro1085Leu | |
| ENST00000304636.9:c.3353C>T MANE Select | ENSP00000304408.4:p.Pro1118Leu | |
| ENST00000304636.7:c.3353C>T | ENSP00000304408.3:p.Pro1118Leu | |
| ENST00000317840.9:c.2528-457C>T | ENSP00000315243.6:n.2528-457C>T | |
| NM_000090.3:c.3353C>T , LRG_3t1:c.3353C>T | NP_000081.1:p.Pro1118Leu | |
| NM_000090.4:c.3353C>T MANE Select | NP_000081.2:p.Pro1118Leu |