Linked Data
dbSNP Id:
rs779104532
ExAC:
10:135352382 C / T
gnomAD v2:
10-135352382-C-T
gnomAD v3:
10-133538878-C-T
gnomAD v4:
10-133538878-C-T
COSMIC:
COSM4675958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133538878C>T , CM000672.2:g.133538878C>T | GRCh38 |
| NC_000010.10:g.135352382C>T , CM000672.1:g.135352382C>T | GRCh37 |
| NC_000010.9:g.135202372C>T | NCBI36 |
| NG_008383.1:g.16516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1396C>T MANE Select | ENSP00000252945.3:p.Pro466Ser | |
| ENST00000252945.7:c.1396C>T | ENSP00000252945.3:p.Pro466Ser | |
| ENST00000368520.1:n.1358+986C>T | ||
| ENST00000463117.6:c.1396C>T | ENSP00000440689.1:p.Pro466Ser | |
| ENST00000469258.1:n.492C>T | ||
| NM_000773.3:c.1396C>T | NP_000764.1:p.Pro466Ser | |
| NM_000773.4:c.1396C>T MANE Select | NP_000764.1:p.Pro466Ser |