Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714260G= , CM000681.2:g.6714260G= | GRCh38 |
| NC_000019.9:g.6714271G= , CM000681.1:g.6714271G= | GRCh37 |
| NC_000019.8:g.6665271G= | NCBI36 |
| NG_009557.1:g.11392C= , LRG_27:g.11392C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.477-12C= | ENSP00000512083.1:n.477-12C= | |
| ENST00000245907.11:c.600-12C= MANE Select | ENSP00000245907.4:n.600-12C= | |
| ENST00000245907.10:c.600-12C= | ENSP00000245907.4:n.600-12C= | |
| ENST00000595577.1:n.92C= | ||
| NM_000064.3:c.600-12C= | NP_000055.2:n.600-12C= | |
| NM_000064.4:c.600-12C= MANE Select | NP_000055.2:n.600-12C= |