Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047845A>C , CM000682.2:g.23047845A>C | GRCh38 |
| NC_000020.10:g.23028482A>C , CM000682.1:g.23028482A>C | GRCh37 |
| NC_000020.9:g.22976482A>C | NCBI36 |
| NG_012027.1:g.6820T>G , LRG_168:g.6820T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1660T>G MANE Select | ENSP00000366307.2:p.Cys554Gly | |
| ENST00000377103.2:c.1660T>G | ENSP00000366307.2:p.Cys554Gly | |
| NM_000361.2:c.1660T>G , LRG_168t1:c.1660T>G | NP_000352.1:p.Cys554Gly | |
| NM_000361.3:c.1660T>G MANE Select | NP_000352.1:p.Cys554Gly |