Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32202704C= , CM000668.2:g.32202704C= | GRCh38 |
| NC_000006.11:g.32170481C= , CM000668.1:g.32170481C= | GRCh37 |
| NC_000006.10:g.32278459C= | NCBI36 |
| NG_028190.1:g.26364G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.3232-105G= MANE Select | ENSP00000364163.3:n.3232-105G= | |
| ENST00000474612.1:n.1213G= | ||
| NM_004557.3:c.3232-105G= | NP_004548.3:n.3232-105G= | |
| NR_134949.1:n.3472+1066G= | ||
| NR_134950.1:n.3370+1066G= | ||
| NM_004557.4:c.3232-105G= MANE Select | NP_004548.3:n.3232-105G= | |
| NR_134949.2:n.3472+1066G= | ||
| NR_134950.2:n.3370+1066G= |