Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832745C>G , CM000673.2:g.116832745C>G | GRCh38 |
| NC_000011.9:g.116703461C>G , CM000673.1:g.116703461C>G | GRCh37 |
| NC_000011.8:g.116208671C>G | NCBI36 |
| NG_008949.1:g.7838C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.180-19C>G MANE Select | ENSP00000227667.2:n.180-19C>G | |
| ENST00000227667.7:c.180-19C>G | ENSP00000227667.2:n.180-19C>G | |
| ENST00000375345.3:c.234-19C>G | ENSP00000364494.1:n.234-19C>G | |
| ENST00000630701.1:c.234-19C>G | ENSP00000486182.1:n.234-19C>G | |
| NM_000040.1:c.180-19C>G | NP_000031.1:n.180-19C>G | |
| NM_000040.2:c.180-19C>G | NP_000031.1:n.180-19C>G | |
| NM_000040.3:c.180-19C>G MANE Select | NP_000031.1:n.180-19C>G |