Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816699C>A , CM000681.2:g.4816699C>A | GRCh38 |
| NC_000019.9:g.4816711C>A , CM000681.1:g.4816711C>A | GRCh37 |
| NC_000019.8:g.4767711C>A | NCBI36 |
| NG_031998.1:g.20044G>T , LRG_358:g.20044G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1679G>T MANE Select | ENSP00000248244.4:p.Arg560Leu | |
| ENST00000248244.5:c.1679G>T | ENSP00000248244.4:p.Arg560Leu | |
| ENST00000621756.1:c.1262G>T | ENSP00000479467.1:p.Arg421Leu | |
| NM_182919.3:c.1679G>T , LRG_358t1:c.1679G>T | NP_891549.1:p.Arg560Leu | |
| NM_001385678.1:c.1637G>T | NP_001372607.1:p.Arg546Leu | |
| NM_001385679.1:c.1544G>T | NP_001372608.1:p.Arg515Leu | |
| NM_001385680.1:c.1037G>T | NP_001372609.1:p.Arg346Leu | |
| NM_182919.4:c.1679G>T MANE Select | NP_891549.1:p.Arg560Leu |