Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714103G= , CM000681.2:g.6714103G= | GRCh38 |
| NC_000019.9:g.6714114G= , CM000681.1:g.6714114G= | GRCh37 |
| NC_000019.8:g.6665114G= | NCBI36 |
| NG_009557.1:g.11549C= , LRG_27:g.11549C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.560-21C= | ENSP00000512083.1:n.560-21C= | |
| ENST00000245907.11:c.683-21C= MANE Select | ENSP00000245907.4:n.683-21C= | |
| ENST00000245907.10:c.683-21C= | ENSP00000245907.4:n.683-21C= | |
| ENST00000595577.1:n.187-21C= | ||
| NM_000064.3:c.683-21C= | NP_000055.2:n.683-21C= | |
| NM_000064.4:c.683-21C= MANE Select | NP_000055.2:n.683-21C= |