Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52188399A= , CM000668.2:g.52188399A= | GRCh38 |
| NC_000006.11:g.52053197A= , CM000668.1:g.52053197A= | GRCh37 |
| NC_000006.10:g.52161156A= | NCBI36 |
| NG_033021.1:g.7013A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002190.3:c.230+594A= MANE Select | NP_002181.1:n.230+594A= |
| ENST00000648244.1:c.230+594A= MANE Select | ENSP00000497968.1:n.230+594A= |
| NM_002190.2:c.230+594A= | NP_002181.1:n.230+594A= |
| ENST00000340057.1:c.230+594A= | ENSP00000344192.1:n.230+594A= |