Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344313G>C , CM000667.2:g.128344313G>C | GRCh38 |
| NC_000005.9:g.127680005G>C , CM000667.1:g.127680005G>C | GRCh37 |
| NC_000005.8:g.127707904G>C | NCBI36 |
| NG_008750.1:g.198731C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262464.9:c.3343+72C>G MANE Select | ENSP00000262464.4:n.3343+72C>G | |
| ENST00000262464.8:c.3343+72C>G | ENSP00000262464.4:n.3343+72C>G | |
| ENST00000508053.5:c.3343+72C>G | ENSP00000424571.1:n.3343+72C>G | |
| ENST00000508989.5:c.3244+72C>G | ENSP00000425596.1:n.3244+72C>G | |
| ENST00000619499.4:c.3340+72C>G | ENSP00000482132.1:n.3340+72C>G | |
| NM_001999.3:c.3343+72C>G | NP_001990.2:n.3343+72C>G | |
| XM_017009228.2:c.3190+72C>G | XP_016864717.1:n.3190+72C>G | |
| NM_001999.4:c.3343+72C>G MANE Select | NP_001990.2:n.3343+72C>G |