Linked Data
dbSNP Id:
rs762948804
ExAC:
6:32411649 C / T
gnomAD v2:
6-32411649-C-T
gnomAD v3:
6-32443872-C-T
gnomAD v4:
6-32443872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443872C>T , CM000668.2:g.32443872C>T | GRCh38 |
| NC_000006.11:g.32411649C>T , CM000668.1:g.32411649C>T | GRCh37 |
| NC_000006.10:g.32519627C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395388.7:c.727C>T MANE Select | ENSP00000378786.2:p.Arg243Cys | |
| ENST00000374982.5:c.652C>T | ENSP00000364121.5:p.Arg218Cys | |
| ENST00000395388.6:c.727C>T | ENSP00000378786.2:p.Arg243Cys | |
| NM_019111.4:c.727C>T | NP_061984.2:p.Arg243Cys | |
| NM_019111.5:c.727C>T MANE Select | NP_061984.2:p.Arg243Cys |