Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993300C= , CM000678.2:g.30993300C= | GRCh38 |
| NC_000016.9:g.31004621C= , CM000678.1:g.31004621C= | GRCh37 |
| NC_000016.8:g.30912122C= | NCBI36 |
| NG_041829.1:g.22209G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.675+47G= MANE Select | ENSP00000215095.5:n.675+47G= | |
| ENST00000565419.2:c.675+47G= | ENSP00000455899.1:n.675+47G= | |
| ENST00000215095.9:c.675+47G= | ENSP00000215095.5:n.675+47G= | |
| ENST00000565419.1:c.675+47G= | ENSP00000455899.1:n.675+47G= | |
| ENST00000569638.5:c.423+47G= | ENSP00000457067.1:n.423+47G= | |
| NM_052874.4:c.675+47G= | NP_443106.1:n.675+47G= | |
| XM_017022893.1:c.657+47G= | XP_016878382.1:n.657+47G= | |
| NM_052874.5:c.675+47G= MANE Select | NP_443106.1:n.675+47G= |