Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33087030A= , CM000668.2:g.33087030A= | GRCh38 |
| NC_000006.11:g.33054807A= , CM000668.1:g.33054807A= | GRCh37 |
| NC_000006.10:g.33162785A= | NCBI36 |
| NG_033242.1:g.16105A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.*496A= MANE Select | ENSP00000408146.2:n.*496A= | |
| ENST00000416804.1:c.1190A= | ||
| ENST00000418931.6:c.*496A= | ENSP00000408146.2:n.*496A= | |
| NM_002121.5:c.*496A= | NP_002112.3:n.*496A= | |
| NM_002121.6:c.*496A= MANE Select | NP_002112.3:n.*496A= |