Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124445G>C , CM000664.2:g.208124445G>C | GRCh38 |
| NC_000002.11:g.208989169G>C , CM000664.1:g.208989169G>C | GRCh37 |
| NC_000002.10:g.208697414G>C | NCBI36 |
| NG_008039.1:g.5145C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006891.4:c.9+20C>G MANE Select | NP_008822.2:n.9+20C>G |
| ENST00000264376.5:c.9+20C>G MANE Select | ENSP00000264376.4:n.9+20C>G |
| NM_006891.3:c.9+20C>G | NP_008822.2:n.9+20C>G |
| NR_038437.1:n.97+5220G>C | |
| ENST00000264376.4:c.9+20C>G | ENSP00000264376.4:n.9+20C>G |