Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.155427889T>C , CM000668.2:g.155427889T>C | GRCh38 |
| NC_000006.11:g.155749023T>C , CM000668.1:g.155749023T>C | GRCh37 |
| NC_000006.10:g.155790715T>C | NCBI36 |
| NG_011995.1:g.33015A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000159060.3:c.1145+905A>G MANE Select | ENSP00000159060.2:n.1145+905A>G | |
| ENST00000159060.2:c.1145+905A>G | ENSP00000159060.2:n.1145+905A>G | |
| NM_015718.2:c.1145+905A>G | NP_056533.1:n.1145+905A>G | |
| NM_015718.3:c.1145+905A>G MANE Select | NP_056533.1:n.1145+905A>G |