Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541542A= , CM000664.2:g.232541542A= | GRCh38 |
| NC_000002.11:g.233406252A= , CM000664.1:g.233406252A= | GRCh37 |
| NC_000002.10:g.233114496A= | NCBI36 |
| NG_012954.1:g.6816A= | |
| NG_012954.2:g.6851A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.506+13A= MANE Select | ENSP00000498757.1:n.506+13A= | |
| ENST00000389492.3:c.350+831A= | ENSP00000374143.3:n.350+831A= | |
| ENST00000389494.7:c.506+13A= | ENSP00000374145.3:n.506+13A= | |
| ENST00000485094.1:n.540A= | ||
| NM_005199.4:c.506+13A= | NP_005190.4:n.506+13A= | |
| NM_005199.5:c.506+13A= MANE Select | NP_005190.4:n.506+13A= |