Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32202683G= , CM000668.2:g.32202683G= | GRCh38 |
| NC_000006.11:g.32170460G= , CM000668.1:g.32170460G= | GRCh37 |
| NC_000006.10:g.32278438G= | NCBI36 |
| NG_028190.1:g.26385C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.3232-84C= MANE Select | ENSP00000364163.3:n.3232-84C= | |
| ENST00000474612.1:n.1234C= | ||
| NM_004557.3:c.3232-84C= | NP_004548.3:n.3232-84C= | |
| NR_134949.1:n.3472+1087C= | ||
| NR_134950.1:n.3370+1087C= | ||
| NM_004557.4:c.3232-84C= MANE Select | NP_004548.3:n.3232-84C= | |
| NR_134949.2:n.3472+1087C= | ||
| NR_134950.2:n.3370+1087C= |