Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111119117T>A , CM000667.2:g.111119117T>A | GRCh38 |
| NC_000005.9:g.110454815T>A , CM000667.1:g.110454815T>A | GRCh37 |
| NC_000005.8:g.110482714T>A | NCBI36 |
| NG_008979.1:g.31946T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513710.4:c.1901T>A MANE Select | ENSP00000424628.3:p.Leu634Gln | |
| ENST00000506538.6:c.2069T>A | ENSP00000423067.2:p.Leu690Gln | |
| ENST00000513710.3:c.1901T>A | ENSP00000424628.3:p.Leu634Gln | |
| ENST00000612402.4:c.2069T>A | ENSP00000479950.1:p.Leu690Gln | |
| NM_139281.2:c.2069T>A | NP_644810.1:p.Leu690Gln | |
| XM_011543163.1:c.2069T>A | XP_011541465.1:p.Leu690Gln | |
| NM_139281.3:c.1901T>A MANE Select | NP_644810.2:p.Leu634Gln |