Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951886G>C , CM000670.2:g.19951886G>C | GRCh38 |
| NC_000008.10:g.19809397G>C , CM000670.1:g.19809397G>C | GRCh37 |
| NC_000008.9:g.19853677G>C | NCBI36 |
| NG_008855.1:g.17816G>C | |
| NG_008855.2:g.55170G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.367G>C MANE Select | ENSP00000497642.1:p.Val123Leu | |
| ENST00000311322.8:c.367G>C | ENSP00000309757.6:p.Val123Leu | |
| ENST00000520959.5:c.139G>C | ENSP00000428496.1:p.Val47Leu | |
| ENST00000524029.5:c.367G>C | ENSP00000428237.1:p.Val123Leu | |
| NM_000237.2:c.367G>C | NP_000228.1:p.Val123Leu | |
| NM_000237.3:c.367G>C MANE Select | NP_000228.1:p.Val123Leu |