Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709658A>C , CM000681.2:g.6709658A>C | GRCh38 |
| NC_000019.9:g.6709669A>C , CM000681.1:g.6709669A>C | GRCh37 |
| NC_000019.8:g.6660669A>C | NCBI36 |
| NG_009557.1:g.15994T>G , LRG_27:g.15994T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695652.1:c.1722+26T>G | ENSP00000512083.1:n.1722+26T>G | |
| ENST00000695654.1:c.969+26T>G | ENSP00000512085.1:n.969+26T>G | |
| ENST00000695655.1:c.786+26T>G | ENSP00000512086.1:n.786+26T>G | |
| ENST00000695692.1:n.1209+26T>G | ||
| ENST00000245907.11:c.1845+26T>G MANE Select | ENSP00000245907.4:n.1845+26T>G | |
| ENST00000245907.10:c.1845+26T>G | ENSP00000245907.4:n.1845+26T>G | |
| NM_000064.3:c.1845+26T>G | NP_000055.2:n.1845+26T>G | |
| NM_000064.4:c.1845+26T>G MANE Select | NP_000055.2:n.1845+26T>G |