Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40845222G>C , CM000681.2:g.40845222G>C | GRCh38 |
| NC_000019.9:g.41351127G>C , CM000681.1:g.41351127G>C | GRCh37 |
| NC_000019.8:g.46042967G>C | NCBI36 |
| NG_008377.1:g.10226C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.1161+72C>G MANE Select | ENSP00000301141.4:n.1161+72C>G | |
| ENST00000301141.9:c.1161+72C>G | ENSP00000301141.4:n.1161+72C>G | |
| ENST00000596719.5:n.1084C>G | ||
| ENST00000601627.1:c.119+43807G>C | ||
| ENST00000610301.1:c.1161+72C>G | ENSP00000477899.1:n.1161+72C>G | |
| NM_000762.5:c.1161+72C>G | NP_000753.3:n.1161+72C>G | |
| NM_000762.6:c.1161+72C>G MANE Select | NP_000753.3:n.1161+72C>G |