Linked Data
dbSNP Id:
rs1042178
ExAC:
6:33037522 T / C
gnomAD v2:
6-33037522-T-C
gnomAD v3:
6-33069745-T-C
gnomAD v4:
6-33069745-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33069745T>C , CM000668.2:g.33069745T>C | GRCh38 |
| NC_000006.11:g.33037522T>C , CM000668.1:g.33037522T>C | GRCh37 |
| NC_000006.10:g.33145500T>C | NCBI36 |
| NG_033241.1:g.16034A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000692443.1:c.242A>G MANE Select | ENSP00000509163.1:p.Gln81Arg | |
| ENST00000419277.5:c.242A>G | ENSP00000393566.1:p.Gln81Arg | |
| ENST00000453337.1:c.242A>G | ENSP00000390929.1:p.Gln81Arg | |
| ENST00000463066.1:n.337A>G | ||
| ENST00000476642.5:n.218A>G | ||
| ENST00000479107.1:n.287A>G | ||
| NM_001242524.1:c.242A>G | NP_001229453.1:p.Gln81Arg | |
| NM_001242525.1:c.242A>G | NP_001229454.1:p.Gln81Arg | |
| NM_033554.3:c.242A>G | NP_291032.2:p.Gln81Arg | |
| XM_011514559.1:c.242A>G | XP_011512861.1:p.Gln81Arg | |
| NM_001242524.2:c.242A>G | NP_001229453.1:p.Gln81Arg | |
| NM_001242525.2:c.242A>G | NP_001229454.1:p.Gln81Arg |