Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24146068A= , CM000668.2:g.24146068A= | GRCh38 |
| NC_000006.11:g.24146296A= , CM000668.1:g.24146296A= | GRCh37 |
| NC_000006.10:g.24254275A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.*122A= MANE Select | ENSP00000367752.4:n.*122A= | |
| ENST00000378478.5:c.*122A= | ENSP00000367739.2:n.*122A= | |
| ENST00000378491.8:c.*122A= | ENSP00000367752.4:n.*122A= | |
| ENST00000468195.2:n.257-8703A= | ||
| NM_080723.4:c.*122A= | NP_542454.3:n.*122A= | |
| NM_080723.5:c.*122A= MANE Select | NP_542454.3:n.*122A= |