Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180304014T= , CM000667.2:g.180304014T= | GRCh38 |
| NC_000005.9:g.179731014T= , CM000667.1:g.179731014T= | GRCh37 |
| NC_000005.8:g.179663620T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253778.13:c.1842+758A= MANE Select | ENSP00000253778.8:n.1842+758A= | |
| ENST00000253778.12:c.1842+758A= | ENSP00000253778.8:n.1842+758A= | |
| NM_005110.2:c.1842+758A= | NP_005101.1:n.1842+758A= | |
| XM_006714942.1:c.1842+758A= | XP_006715005.1:n.1842+758A= | |
| NM_005110.3:c.1842+758A= | NP_005101.1:n.1842+758A= | |
| XM_006714942.2:c.1842+758A= | XP_006715005.1:n.1842+758A= | |
| XM_017010100.2:c.1317+758A= | XP_016865589.1:n.1317+758A= | |
| XR_001742394.1:n.2366+758A= | ||
| NM_005110.4:c.1842+758A= MANE Select | NP_005101.1:n.1842+758A= |