Linked Data
dbSNP Id:
rs758156711
ExAC:
10:112361545 T / C
gnomAD v2:
10-112361545-T-C
gnomAD v4:
10-110601787-T-C
COSMIC:
COSM5487671
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601787T>C , CM000672.2:g.110601787T>C | GRCh38 |
| NC_000010.10:g.112361545T>C , CM000672.1:g.112361545T>C | GRCh37 |
| NC_000010.9:g.112351535T>C | NCBI36 |
| NG_012217.1:g.39097T>C , LRG_774:g.39097T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5028T>C | ||
| ENST00000685743.1:n.2503T>C | ||
| ENST00000686057.1:n.1146T>C | ||
| ENST00000689321.1:n.1758T>C | ||
| ENST00000689986.1:n.584T>C | ||
| ENST00000361804.5:c.2795T>C MANE Select | ENSP00000354720.5:p.Leu932Pro | |
| ENST00000361804.4:c.2795T>C | ENSP00000354720.4:p.Leu932Pro | |
| NM_005445.3:c.2795T>C , LRG_774t1:c.2795T>C | NP_005436.1:p.Leu932Pro | |
| NM_005445.4:c.2795T>C MANE Select | NP_005436.1:p.Leu932Pro |