Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49594946G= , CM000680.2:g.49594946G= | GRCh38 |
| NC_000018.9:g.47121316G= , CM000680.1:g.47121316G= | GRCh37 |
| NC_000018.8:g.45375314G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006033.4:c.*4424G= MANE Select | NP_006024.1:n.*4424G= |
| ENST00000261292.9:c.*4424G= MANE Select | ENSP00000261292.4:n.*4424G= |
| NM_001308006.2:c.*4424G= | NP_001294935.1:n.*4424G= |
| ENST00000261292.8:c.*4424G= | ENSP00000261292.4:n.*4424G= |