Linked Data
dbSNP Id:
rs375526684
ExAC:
8:23540323 G / C
gnomAD v2:
8-23540323-G-C
gnomAD v4:
8-23682810-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23682810G>C , CM000670.2:g.23682810G>C | GRCh38 |
| NC_000008.10:g.23540323G>C , CM000670.1:g.23540323G>C | GRCh37 |
| NC_000008.9:g.23596268G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380871.5:c.80C>G MANE Select | ENSP00000370253.4:p.Thr27Arg | |
| ENST00000380871.4:c.80C>G | ENSP00000370253.4:p.Thr27Arg | |
| ENST00000523261.1:c.33+47C>G | ENSP00000429729.1:n.33+47C>G | |
| NM_001256339.1:c.33+47C>G | NP_001243268.1:n.33+47C>G | |
| NM_006167.3:c.80C>G | NP_006158.2:p.Thr27Arg | |
| NR_046072.1:n.18+94C>G | ||
| XR_001745842.1:n.1312+14060G>C | ||
| NM_006167.4:c.80C>G MANE Select | NP_006158.2:p.Thr27Arg | |
| NR_046072.2:n.35+94C>G |