Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713403G= , CM000681.2:g.6713403G= | GRCh38 |
| NC_000019.9:g.6713414G= , CM000681.1:g.6713414G= | GRCh37 |
| NC_000019.8:g.6664414G= | NCBI36 |
| NG_009557.1:g.12249C= , LRG_27:g.12249C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.753+4C= | ENSP00000512083.1:n.753+4C= | |
| ENST00000695692.1:n.200+4C= | ||
| ENST00000245907.11:c.876+4C= MANE Select | ENSP00000245907.4:n.876+4C= | |
| ENST00000245907.10:c.876+4C= | ENSP00000245907.4:n.876+4C= | |
| ENST00000595577.1:n.380+4C= | ||
| ENST00000597442.5:n.126+4C= | ||
| NM_000064.3:c.876+4C= | NP_000055.2:n.876+4C= | |
| NM_000064.4:c.876+4C= MANE Select | NP_000055.2:n.876+4C= |