Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233103G= , CM000667.2:g.55233103G= | GRCh38 |
| NC_000005.9:g.54528931G= , CM000667.1:g.54528931G= | GRCh37 |
| NC_000005.8:g.54564688G= | NCBI36 |
| NG_034201.1:g.5615C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+40C= MANE Select | ENSP00000282572.4:n.381+40C= | |
| ENST00000282572.4:c.381+40C= | ENSP00000282572.4:n.381+40C= | |
| ENST00000501463.2:c.*25C= | ENSP00000422485.1:n.*25C= | |
| NM_021147.4:c.381+40C= | NP_066970.3:n.381+40C= | |
| NR_125346.1:n.615C= | ||
| NR_125347.1:n.580+35C= | ||
| NM_021147.5:c.381+40C= MANE Select | NP_066970.3:n.381+40C= | |
| NR_125346.2:n.506C= | ||
| NR_125347.2:n.471+35C= |