Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23046776T>C , CM000682.2:g.23046776T>C | GRCh38 |
| NC_000020.10:g.23027413T>C , CM000682.1:g.23027413T>C | GRCh37 |
| NC_000020.9:g.22975413T>C | NCBI36 |
| NG_012027.1:g.7889A>G , LRG_168:g.7889A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000361.3:c.*1001A>G MANE Select | NP_000352.1:n.*1001A>G |
| ENST00000377103.3:c.*1001A>G MANE Select | ENSP00000366307.2:n.*1001A>G |
| NM_000361.2:c.*1001A>G , LRG_168t1:c.*1001A>G | NP_000352.1:n.*1001A>G |
| ENST00000377103.2:c.*1001A>G | ENSP00000366307.2:n.*1001A>G |