Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27405147C>G , CM000663.2:g.27405147C>G | GRCh38 |
| NC_000001.10:g.27731651C>G , CM000663.1:g.27731651C>G | GRCh37 |
| NC_000001.9:g.27604238C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618852.5:c.*3042G>C MANE Select | ENSP00000483313.1:n.*3042G>C | |
| ENST00000618852.4:c.*3042G>C | ENSP00000483313.1:n.*3042G>C | |
| NM_001201404.2:c.*3178G>C | NP_001188333.1:n.*3178G>C | |
| NM_006990.4:c.*3042G>C | NP_008921.1:n.*3042G>C | |
| NM_006990.5:c.*3042G>C MANE Select | NP_008921.1:n.*3042G>C | |
| NM_001201404.3:c.*3178G>C | NP_001188333.1:n.*3178G>C |