Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710937G>C , CM000681.2:g.6710937G>C | GRCh38 |
| NC_000019.9:g.6710948G>C , CM000681.1:g.6710948G>C | GRCh37 |
| NC_000019.8:g.6661948G>C | NCBI36 |
| NG_009557.1:g.14715C>G , LRG_27:g.14715C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1479+50C>G MANE Select | NP_000055.2:n.1479+50C>G |
| ENST00000245907.11:c.1479+50C>G MANE Select | ENSP00000245907.4:n.1479+50C>G |
| NM_000064.3:c.1479+50C>G | NP_000055.2:n.1479+50C>G |
| ENST00000245907.10:c.1479+50C>G | ENSP00000245907.4:n.1479+50C>G |
| ENST00000600763.1:n.21C>G | |
| ENST00000695652.1:c.1356+50C>G | ENSP00000512083.1:n.1356+50C>G |
| ENST00000695654.1:c.603+50C>G | ENSP00000512085.1:n.603+50C>G |
| ENST00000695655.1:c.360+50C>G | ENSP00000512086.1:n.360+50C>G |
| ENST00000695692.1:n.843+50C>G |