Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6712872C= , CM000681.2:g.6712872C= | GRCh38 |
| NC_000019.9:g.6712883C= , CM000681.1:g.6712883C= | GRCh37 |
| NC_000019.8:g.6663883C= | NCBI36 |
| NG_009557.1:g.12780G= , LRG_27:g.12780G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.881-249G= | ENSP00000512083.1:n.881-249G= | |
| ENST00000695654.1:c.128-249G= | ENSP00000512085.1:n.128-249G= | |
| ENST00000695692.1:n.328-209G= | ||
| ENST00000245907.11:c.1004-249G= MANE Select | ENSP00000245907.4:n.1004-249G= | |
| ENST00000245907.10:c.1004-249G= | ENSP00000245907.4:n.1004-249G= | |
| ENST00000594270.5:n.128-270G= | ||
| ENST00000595577.1:n.508-249G= | ||
| ENST00000597442.5:n.254-249G= | ||
| NM_000064.3:c.1004-249G= | NP_000055.2:n.1004-249G= | |
| NM_000064.4:c.1004-249G= MANE Select | NP_000055.2:n.1004-249G= |