Linked Data
dbSNP Id:
rs1377934851
gnomAD v2:
5-145719208-C-T
gnomAD v3:
5-146339645-C-T
gnomAD v4:
5-146339645-C-T
COSMIC:
COSM4411229
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339645C>T , CM000667.2:g.146339645C>T | GRCh38 |
| NC_000005.9:g.145719208C>T , CM000667.1:g.145719208C>T | GRCh37 |
| NC_000005.8:g.145699401C>T | NCBI36 |
| NG_011885.1:g.5622C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.218C>T MANE Select | ENSP00000495718.1:p.Pro73Leu | |
| ENST00000230732.4:c.218C>T | ENSP00000230732.4:p.Pro73Leu | |
| NM_002700.2:c.218C>T | NP_002691.1:p.Pro73Leu | |
| NM_002700.3:c.218C>T MANE Select | NP_002691.1:p.Pro73Leu |