Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23048049C>G , CM000682.2:g.23048049C>G | GRCh38 |
| NC_000020.10:g.23028686C>G , CM000682.1:g.23028686C>G | GRCh37 |
| NC_000020.9:g.22976686C>G | NCBI36 |
| NG_012027.1:g.6616G>C , LRG_168:g.6616G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000361.3:c.1456G>C MANE Select | NP_000352.1:p.Asp486His |
| ENST00000377103.3:c.1456G>C MANE Select | ENSP00000366307.2:p.Asp486His |
| NM_000361.2:c.1456G>C , LRG_168t1:c.1456G>C | NP_000352.1:p.Asp486His |
| ENST00000377103.2:c.1456G>C | ENSP00000366307.2:p.Asp486His |