Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21703356A= , CM000669.2:g.21703356A= | GRCh38 |
| NC_000007.13:g.21742974A= , CM000669.1:g.21742974A= | GRCh37 |
| NC_000007.12:g.21709499A= | NCBI36 |
| NG_012886.2:g.165142A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.6273+554A= MANE Select | NP_001264044.1:n.6273+554A= |
| ENST00000409508.8:c.6273+554A= MANE Select | ENSP00000475939.1:n.6273+554A= |
| NM_001277115.1:c.6273+554A= | NP_001264044.1:n.6273+554A= |
| ENST00000328843.10:c.6294+554A= | ENSP00000330671.7:n.6294+554A= |
| ENST00000409508.7:c.6273+554A= | ENSP00000475939.1:n.6273+554A= |
| ENST00000465129.1:n.94-93A= | |
| ENST00000620169.4:c.6294+554A= | ENSP00000481693.1:n.6294+554A= |