Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714122A>C , CM000681.2:g.6714122A>C | GRCh38 |
| NC_000019.9:g.6714133A>C , CM000681.1:g.6714133A>C | GRCh37 |
| NC_000019.8:g.6665133A>C | NCBI36 |
| NG_009557.1:g.11530T>G , LRG_27:g.11530T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.560-40T>G | ENSP00000512083.1:n.560-40T>G | |
| ENST00000245907.11:c.683-40T>G MANE Select | ENSP00000245907.4:n.683-40T>G | |
| ENST00000245907.10:c.683-40T>G | ENSP00000245907.4:n.683-40T>G | |
| ENST00000595577.1:n.187-40T>G | ||
| NM_000064.3:c.683-40T>G | NP_000055.2:n.683-40T>G | |
| NM_000064.4:c.683-40T>G MANE Select | NP_000055.2:n.683-40T>G |