Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887358C= , CM000664.2:g.43887358C= | GRCh38 |
| NC_000002.11:g.44114497C= , CM000664.1:g.44114497C= | GRCh37 |
| NC_000002.10:g.43968001C= | NCBI36 |
| NG_008247.1:g.113648G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2194G= | ||
| ENST00000684454.1:n.9291G= | ||
| ENST00000260665.12:c.*1242G= MANE Select | ENSP00000260665.7:n.*1242G= | |
| ENST00000260665.11:c.*1242G= | ENSP00000260665.7:n.*1242G= | |
| NM_133259.3:c.*1242G= | NP_573566.2:n.*1242G= | |
| XR_002958896.1:n.5609G= | ||
| NM_133259.4:c.*1242G= MANE Select | NP_573566.2:n.*1242G= |