Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24174704C>A , CM000668.2:g.24174704C>A | GRCh38 |
| NC_000006.11:g.24174932C>A , CM000668.1:g.24174932C>A | GRCh37 |
| NC_000006.10:g.24282911C>A | NCBI36 |
| NG_012829.1:g.188349G>T | |
| NG_012829.2:g.213589G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.*26G>T MANE Select | ENSP00000367715.3:n.*26G>T | |
| ENST00000378450.6:c.*26G>T | ENSP00000367711.3:n.*26G>T | |
| ENST00000378454.7:c.*26G>T | ENSP00000367715.3:n.*26G>T | |
| NM_001195610.1:c.*26G>T | NP_001182539.1:n.*26G>T | |
| NM_016356.4:c.*26G>T | NP_057440.2:n.*26G>T | |
| NM_016356.5:c.*26G>T MANE Select | NP_057440.2:n.*26G>T | |
| NM_001195610.2:c.*26G>T | NP_001182539.1:n.*26G>T |