Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047906C>G , CM000682.2:g.23047906C>G | GRCh38 |
| NC_000020.10:g.23028543C>G , CM000682.1:g.23028543C>G | GRCh37 |
| NC_000020.9:g.22976543C>G | NCBI36 |
| NG_012027.1:g.6759G>C , LRG_168:g.6759G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1599G>C MANE Select | ENSP00000366307.2:p.Leu533Phe | |
| ENST00000377103.2:c.1599G>C | ENSP00000366307.2:p.Leu533Phe | |
| NM_000361.2:c.1599G>C , LRG_168t1:c.1599G>C | NP_000352.1:p.Leu533Phe | |
| NM_000361.3:c.1599G>C MANE Select | NP_000352.1:p.Leu533Phe |