Linked Data
dbSNP Id:
rs538852786
ExAC:
10:96701658 T / G
gnomAD v2:
10-96701658-T-G
gnomAD v3:
10-94941901-T-G
gnomAD v4:
10-94941901-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941901T>G , CM000672.2:g.94941901T>G | GRCh38 |
| NC_000010.10:g.96701658T>G , CM000672.1:g.96701658T>G | GRCh37 |
| NC_000010.9:g.96691648T>G | NCBI36 |
| NG_008385.1:g.8244T>G | |
| NG_008385.2:g.8744T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.212T>G MANE Select | ENSP00000260682.6:p.Leu71Arg | |
| ENST00000643112.1:c.212T>G | ENSP00000496202.1:p.Leu71Arg | |
| ENST00000645207.1:n.365T>G | ||
| ENST00000260682.6:c.212T>G | ENSP00000260682.6:p.Leu71Arg | |
| ENST00000461906.1:n.237T>G | ||
| NM_000771.3:c.212T>G | NP_000762.2:p.Leu71Arg | |
| NM_000771.4:c.212T>G MANE Select | NP_000762.2:p.Leu71Arg |