Linked Data
dbSNP Id:
rs768096659
ExAC:
10:96522470 C / T
gnomAD v2:
10-96522470-C-T
COSMIC:
COSM3709965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762713C>T , CM000672.2:g.94762713C>T | GRCh38 |
| NC_000010.10:g.96522470C>T , CM000672.1:g.96522470C>T | GRCh37 |
| NC_000010.9:g.96512460C>T | NCBI36 |
| NG_008384.2:g.5008C>T | |
| NG_008384.3:g.5033C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.8C>T MANE Select | ENSP00000360372.3:p.Pro3Leu | |
| ENST00000371321.7:c.8C>T | ENSP00000360372.3:p.Pro3Leu | |
| ENST00000464755.1:c.932-12345C>T | ENSP00000483243.1:n.932-12345C>T | |
| ENST00000480405.2:c.8C>T | ENSP00000483847.1:p.Pro3Leu | |
| NM_000769.2:c.8C>T | NP_000760.1:p.Pro3Leu | |
| NM_000769.4:c.8C>T MANE Select | NP_000760.1:p.Pro3Leu |