Linked Data
dbSNP Id:
rs764290968
ExAC:
6:33036485 A / G
gnomAD v2:
6-33036485-A-G
gnomAD v4:
6-33068708-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33068708A>G , CM000668.2:g.33068708A>G | GRCh38 |
| NC_000006.11:g.33036485A>G , CM000668.1:g.33036485A>G | GRCh37 |
| NC_000006.10:g.33144463A>G | NCBI36 |
| NG_033241.1:g.17071T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692443.1:c.725T>C MANE Select | ENSP00000509163.1:p.Val242Ala | |
| ENST00000419277.5:c.725T>C | ENSP00000393566.1:p.Val242Ala | |
| ENST00000437811.1:c.327T>C | ||
| ENST00000479107.1:n.1324T>C | ||
| NM_001242524.1:c.725T>C | NP_001229453.1:p.Val242Ala | |
| NM_001242525.1:c.725T>C | NP_001229454.1:p.Val242Ala | |
| NM_033554.3:c.725T>C | NP_291032.2:p.Val242Ala | |
| XM_011514559.1:c.628+311T>C | XP_011512861.1:n.628+311T>C | |
| NM_001242524.2:c.725T>C | NP_001229453.1:p.Val242Ala | |
| NM_001242525.2:c.725T>C | NP_001229454.1:p.Val242Ala |