Linked Data
dbSNP Id:
rs764057132
ExAC:
1:160394920 C / T
gnomAD v2:
1-160394920-C-T
gnomAD v4:
1-160425130-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160425130C>T , CM000663.2:g.160425130C>T | GRCh38 |
| NC_000001.10:g.160394920C>T , CM000663.1:g.160394920C>T | GRCh37 |
| NC_000001.9:g.158661544C>T | NCBI36 |
| NG_023420.1:g.29557C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696602.1:c.1462C>T | ENSP00000512747.1:p.Arg488Ter | |
| ENST00000368061.3:c.1318C>T MANE Select | ENSP00000357040.2:p.Arg440Ter | |
| ENST00000368061.2:c.1318C>T | ENSP00000357040.2:p.Arg440Ter | |
| NM_020335.2:c.1318C>T | NP_065068.1:p.Arg440Ter | |
| XM_005245357.1:c.1318C>T | XP_005245414.1:p.Arg440Ter | |
| XM_011509804.1:c.1318C>T | XP_011508106.1:p.Arg440Ter | |
| NM_020335.3:c.1318C>T MANE Select | NP_065068.1:p.Arg440Ter |