Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6122775T= , CM000682.2:g.6122775T= | GRCh38 |
| NC_000020.10:g.6103422T= , CM000682.1:g.6103422T= | GRCh37 |
| NC_000020.9:g.6051422T= | NCBI36 |
| NG_016213.1:g.5770A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.-20A= MANE Select | NP_060141.3:n.-20A= |
| ENST00000217289.9:c.-20A= MANE Select | ENSP00000217289.4:n.-20A= |
| NM_017671.4:c.-20A= | NP_060141.3:n.-20A= |
| ENST00000217289.8:c.-20A= | ENSP00000217289.4:n.-20A= |
| ENST00000536936.1:c.-560A= | ENSP00000441063.1:n.-560A= |
| ENST00000699095.1:c.-3221A= | ENSP00000514127.1:n.-3221A= |
| ENST00000699096.1:n.440A= | |
| XM_024451935.1:c.-23A= | XP_024307703.1:n.-23A= |