Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962810C= , CM000670.2:g.19962810C= | GRCh38 |
| NC_000008.10:g.19820321C= , CM000670.1:g.19820321C= | GRCh37 |
| NC_000008.9:g.19864601C= | NCBI36 |
| NG_008855.1:g.28740C= | |
| NG_008855.2:g.66094C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1427+591C= MANE Select | ENSP00000497642.1:n.1427+591C= | |
| ENST00000650478.1:c.367+591C= | ENSP00000497560.1:n.367+591C= | |
| ENST00000311322.8:c.1427+591C= | ENSP00000309757.6:n.1427+591C= | |
| NM_000237.2:c.1427+591C= | NP_000228.1:n.1427+591C= | |
| NM_000237.3:c.1427+591C= MANE Select | NP_000228.1:n.1427+591C= |