Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33087084A= , CM000668.2:g.33087084A= | GRCh38 |
| NC_000006.11:g.33054861A= , CM000668.1:g.33054861A= | GRCh37 |
| NC_000006.10:g.33162839A= | NCBI36 |
| NG_033242.1:g.16159A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002121.6:c.*550A= MANE Select | NP_002112.3:n.*550A= |
| ENST00000418931.7:c.*550A= MANE Select | ENSP00000408146.2:n.*550A= |
| NM_002121.5:c.*550A= | NP_002112.3:n.*550A= |
| ENST00000416804.1:c.1244A= | |
| ENST00000418931.6:c.*550A= | ENSP00000408146.2:n.*550A= |