Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94763225C= , CM000672.2:g.94763225C= | GRCh38 |
| NC_000010.10:g.96522982C= , CM000672.1:g.96522982C= | GRCh37 |
| NC_000010.9:g.96512972C= | NCBI36 |
| NG_008384.2:g.5520C= | |
| NG_008384.3:g.5545C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.168+352C= MANE Select | ENSP00000360372.3:n.168+352C= | |
| ENST00000371321.7:c.168+352C= | ENSP00000360372.3:n.168+352C= | |
| ENST00000464755.1:c.932-11833C= | ENSP00000483243.1:n.932-11833C= | |
| ENST00000480405.2:c.168+352C= | ENSP00000483847.1:n.168+352C= | |
| NM_000769.2:c.168+352C= | NP_000760.1:n.168+352C= | |
| NM_000769.4:c.168+352C= MANE Select | NP_000760.1:n.168+352C= |