Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32205216C= , CM000668.2:g.32205216C= | GRCh38 |
| NC_000006.11:g.32172993C= , CM000668.1:g.32172993C= | GRCh37 |
| NC_000006.10:g.32280971C= | NCBI36 |
| NG_028190.1:g.23852G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004557.4:c.2866-827G= MANE Select | NP_004548.3:n.2866-827G= |
| ENST00000375023.3:c.2866-827G= MANE Select | ENSP00000364163.3:n.2866-827G= |
| NM_004557.3:c.2866-827G= | NP_004548.3:n.2866-827G= |
| NR_134949.1:n.3107-827G= | |
| NR_134949.2:n.3107-827G= | |
| NR_134950.1:n.3005-827G= | |
| NR_134950.2:n.3005-827G= |