Linked Data
dbSNP Id:
rs141775728
ExAC:
17:7405934 C / G
gnomAD v2:
17-7405934-C-G
gnomAD v4:
17-7502615-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7502615C>G , CM000679.2:g.7502615C>G | GRCh38 |
| NC_000017.10:g.7405934C>G , CM000679.1:g.7405934C>G | GRCh37 |
| NC_000017.9:g.7346658C>G | NCBI36 |
| NG_027747.1:g.23237C>G | |
| NG_027747.2:g.23237C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617998.6:n.3069C>G | ||
| ENST00000674977.2:c.2670C>G | ENSP00000502190.2:p.Arg890= | |
| ENST00000576114.1:n.136C>G | ||
| ENST00000617998.4:c.2670C>G | ENSP00000480158.1:p.Arg890= | |
| ENST00000621442.4:c.2670C>G | ENSP00000483957.1:p.Arg890= | |
| NM_000937.4:c.2670C>G | NP_000928.1:p.Arg890= | |
| NM_000937.5:c.2670C>G MANE Select | NP_000928.1:p.Arg890= |