Linked Data
dbSNP Id:
rs754501454
ExAC:
10:112361458 G / T
gnomAD v2:
10-112361458-G-T
gnomAD v3:
10-110601700-G-T
gnomAD v4:
10-110601700-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601700G>T , CM000672.2:g.110601700G>T | GRCh38 |
| NC_000010.10:g.112361458G>T , CM000672.1:g.112361458G>T | GRCh37 |
| NC_000010.9:g.112351448G>T | NCBI36 |
| NG_012217.1:g.39010G>T , LRG_774:g.39010G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.4941G>T | ||
| ENST00000685743.1:n.2416G>T | ||
| ENST00000686057.1:n.1059G>T | ||
| ENST00000689321.1:n.1671G>T | ||
| ENST00000689986.1:n.497G>T | ||
| ENST00000361804.5:c.2708G>T MANE Select | ENSP00000354720.5:p.Arg903Leu | |
| ENST00000361804.4:c.2708G>T | ENSP00000354720.4:p.Arg903Leu | |
| NM_005445.3:c.2708G>T , LRG_774t1:c.2708G>T | NP_005436.1:p.Arg903Leu | |
| NM_005445.4:c.2708G>T MANE Select | NP_005436.1:p.Arg903Leu |