Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52190537C>A , CM000668.2:g.52190537C>A | GRCh38 |
| NC_000006.11:g.52055335C>A , CM000668.1:g.52055335C>A | GRCh37 |
| NC_000006.10:g.52163294C>A | NCBI36 |
| NG_033021.1:g.9151C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002190.3:c.*1245C>A MANE Select | NP_002181.1:n.*1245C>A |
| ENST00000648244.1:c.*1245C>A MANE Select | ENSP00000497968.1:n.*1245C>A |
| NM_002190.2:c.*1245C>A | NP_002181.1:n.*1245C>A |
| ENST00000340057.1:c.*1245C>A | ENSP00000344192.1:n.*1245C>A |