Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94849925C= , CM000672.2:g.94849925C= | GRCh38 |
| NC_000010.10:g.96609682C= , CM000672.1:g.96609682C= | GRCh37 |
| NC_000010.9:g.96599672C= | NCBI36 |
| NG_008384.2:g.92220C= | |
| NG_008384.3:g.92245C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1158C= MANE Select | ENSP00000360372.3:p.Thr386= | |
| ENST00000645461.1:n.2069C= | ||
| ENST00000371321.7:c.1158C= | ENSP00000360372.3:p.Thr386= | |
| ENST00000464755.1:c.1921C= | ENSP00000483243.1:n.1921C= | |
| NM_000769.2:c.1158C= | NP_000760.1:p.Thr386= | |
| NM_000769.4:c.1158C= MANE Select | NP_000760.1:p.Thr386= |