Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17305990A= , CM000669.2:g.17305990A= | GRCh38 |
| NC_000007.13:g.17345614A= , CM000669.1:g.17345614A= | GRCh37 |
| NC_000007.12:g.17312139A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001621.5:c.66-3946A= MANE Select | NP_001612.1:n.66-3946A= |
| ENST00000242057.9:c.66-3946A= MANE Select | ENSP00000242057.4:n.66-3946A= |
| NM_001621.4:c.66-3946A= | NP_001612.1:n.66-3946A= |
| ENST00000242057.8:c.66-3946A= | ENSP00000242057.4:n.66-3946A= |
| ENST00000463496.1:c.66-3946A= | ENSP00000436466.1:n.66-3946A= |
| ENST00000637807.1:c.36-3946A= | ENSP00000490530.1:n.36-3946A= |
| ENST00000642825.1:c.21-3946A= | ENSP00000495987.1:n.21-3946A= |