Linked Data
dbSNP Id:
rs367543002
ExAC:
10:96522469 C / T
gnomAD v2:
10-96522469-C-T
gnomAD v3:
10-94762712-C-T
gnomAD v4:
10-94762712-C-T
COSMIC:
COSM1721782
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762712C>T , CM000672.2:g.94762712C>T | GRCh38 |
| NC_000010.10:g.96522469C>T , CM000672.1:g.96522469C>T | GRCh37 |
| NC_000010.9:g.96512459C>T | NCBI36 |
| NG_008384.2:g.5007C>T | |
| NG_008384.3:g.5032C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.7C>T MANE Select | ENSP00000360372.3:p.Pro3Ser | |
| ENST00000371321.7:c.7C>T | ENSP00000360372.3:p.Pro3Ser | |
| ENST00000464755.1:c.932-12346C>T | ENSP00000483243.1:n.932-12346C>T | |
| ENST00000480405.2:c.7C>T | ENSP00000483847.1:p.Pro3Ser | |
| NM_000769.2:c.7C>T | NP_000760.1:p.Pro3Ser | |
| NM_000769.4:c.7C>T MANE Select | NP_000760.1:p.Pro3Ser |