Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23046984T>G , CM000682.2:g.23046984T>G | GRCh38 |
| NC_000020.10:g.23027621T>G , CM000682.1:g.23027621T>G | GRCh37 |
| NC_000020.9:g.22975621T>G | NCBI36 |
| NG_012027.1:g.7681A>C , LRG_168:g.7681A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000361.3:c.*793A>C MANE Select | NP_000352.1:n.*793A>C |
| ENST00000377103.3:c.*793A>C MANE Select | ENSP00000366307.2:n.*793A>C |
| NM_000361.2:c.*793A>C , LRG_168t1:c.*793A>C | NP_000352.1:n.*793A>C |
| ENST00000377103.2:c.*793A>C | ENSP00000366307.2:n.*793A>C |