Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64162995G>C , CM000677.2:g.64162995G>C | GRCh38 |
| NC_000015.9:g.64455194G>C , CM000677.1:g.64455194G>C | GRCh37 |
| NC_000015.8:g.62242247G>C | NCBI36 |
| NG_012979.1:g.5161C>G , LRG_10:g.5161C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000942.5:c.-9C>G MANE Select | NP_000933.1:n.-9C>G |
| ENST00000300026.4:c.-9C>G MANE Select | ENSP00000300026.4:n.-9C>G |
| NM_000942.4:c.-9C>G , LRG_10t1:c.-9C>G | NP_000933.1:n.-9C>G |
| ENST00000300026.3:c.-9C>G | ENSP00000300026.3:n.-9C>G |
| ENST00000558492.1:n.12C>G | |
| ENST00000561048.1:n.27C>G | |
| ENST00000561048.2:n.25C>G | |
| ENST00000680158.1:c.-9C>G | ENSP00000504873.1:n.-9C>G |
| ENST00000681397.1:c.-9C>G | ENSP00000506584.1:n.-9C>G |
| ENST00000681658.1:c.-9C>G | ENSP00000505431.1:n.-9C>G |