Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24146062T>C , CM000668.2:g.24146062T>C | GRCh38 |
| NC_000006.11:g.24146290T>C , CM000668.1:g.24146290T>C | GRCh37 |
| NC_000006.10:g.24254269T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.*116T>C MANE Select | ENSP00000367752.4:n.*116T>C | |
| ENST00000378478.5:c.*116T>C | ENSP00000367739.2:n.*116T>C | |
| ENST00000378491.8:c.*116T>C | ENSP00000367752.4:n.*116T>C | |
| ENST00000468195.2:n.257-8709T>C | ||
| NM_080723.4:c.*116T>C | NP_542454.3:n.*116T>C | |
| NM_080723.5:c.*116T>C MANE Select | NP_542454.3:n.*116T>C |