Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94850005T>A , CM000672.2:g.94850005T>A | GRCh38 |
| NC_000010.10:g.96609762T>A , CM000672.1:g.96609762T>A | GRCh37 |
| NC_000010.9:g.96599752T>A | NCBI36 |
| NG_008384.2:g.92300T>A | |
| NG_008384.3:g.92325T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1238T>A MANE Select | ENSP00000360372.3:p.Leu413Gln | |
| ENST00000645461.1:n.2149T>A | ||
| ENST00000371321.7:c.1238T>A | ENSP00000360372.3:p.Leu413Gln | |
| ENST00000464755.1:c.2001T>A | ENSP00000483243.1:n.2001T>A | |
| NM_000769.2:c.1238T>A | NP_000760.1:p.Leu413Gln | |
| NM_000769.4:c.1238T>A MANE Select | NP_000760.1:p.Leu413Gln |