Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233038G>C , CM000667.2:g.55233038G>C | GRCh38 |
| NC_000005.9:g.54528866G>C , CM000667.1:g.54528866G>C | GRCh37 |
| NC_000005.8:g.54564623G>C | NCBI36 |
| NG_034201.1:g.5680C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+105C>G MANE Select | ENSP00000282572.4:n.381+105C>G | |
| ENST00000282572.4:c.381+105C>G | ENSP00000282572.4:n.381+105C>G | |
| ENST00000501463.2:c.*90C>G | ENSP00000422485.1:n.*90C>G | |
| NM_021147.4:c.381+105C>G | NP_066970.3:n.381+105C>G | |
| NR_125346.1:n.680C>G | ||
| NR_125347.1:n.580+100C>G | ||
| NM_021147.5:c.381+105C>G MANE Select | NP_066970.3:n.381+105C>G | |
| NR_125346.2:n.571C>G | ||
| NR_125347.2:n.471+100C>G |