Linked Data
dbSNP Id:
rs766955165
ExAC:
20:10625609 A / C
gnomAD v2:
20-10625609-A-C
gnomAD v4:
20-10644961-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644961A>C , CM000682.2:g.10644961A>C | GRCh38 |
| NC_000020.10:g.10625609A>C , CM000682.1:g.10625609A>C | GRCh37 |
| NC_000020.9:g.10573609A>C | NCBI36 |
| NG_007496.1:g.34086T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2246T>G MANE Select | ENSP00000254958.4:p.Leu749Arg | |
| ENST00000617965.2:n.2835T>G | ||
| ENST00000254958.9:c.2246T>G | ENSP00000254958.4:p.Leu749Arg | |
| ENST00000423891.6:n.2112T>G | ||
| ENST00000488480.2:n.643T>G | ||
| NM_000214.2:c.2246T>G | NP_000205.1:p.Leu749Arg | |
| NM_000214.3:c.2246T>G MANE Select | NP_000205.1:p.Leu749Arg |