Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709551G>A , CM000681.2:g.6709551G>A | GRCh38 |
| NC_000019.9:g.6709562G>A , CM000681.1:g.6709562G>A | GRCh37 |
| NC_000019.8:g.6660562G>A | NCBI36 |
| NG_009557.1:g.16101C>T , LRG_27:g.16101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1722+133C>T | ENSP00000512083.1:n.1722+133C>T | |
| ENST00000695654.1:c.969+133C>T | ENSP00000512085.1:n.969+133C>T | |
| ENST00000695655.1:c.786+133C>T | ENSP00000512086.1:n.786+133C>T | |
| ENST00000695692.1:n.1209+133C>T | ||
| ENST00000245907.11:c.1845+133C>T MANE Select | ENSP00000245907.4:n.1845+133C>T | |
| ENST00000245907.10:c.1845+133C>T | ENSP00000245907.4:n.1845+133C>T | |
| NM_000064.3:c.1845+133C>T | NP_000055.2:n.1845+133C>T | |
| NM_000064.4:c.1845+133C>T MANE Select | NP_000055.2:n.1845+133C>T |