Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6058078G= , CM000674.2:g.6058078G= | GRCh38 |
| NC_000012.11:g.6167244G= , CM000674.1:g.6167244G= | GRCh37 |
| NC_000012.10:g.6037505G= | NCBI36 |
| NG_009072.1:g.71593C= | |
| NG_009072.2:g.71593C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1534-34C= MANE Select | ENSP00000261405.5:n.1534-34C= | |
| ENST00000261405.9:c.1534-34C= | ENSP00000261405.5:n.1534-34C= | |
| ENST00000538635.5:n.420+52437C= | ||
| NM_000552.3:c.1534-34C= | NP_000543.2:n.1534-34C= | |
| NM_000552.4:c.1534-34C= | NP_000543.2:n.1534-34C= | |
| NM_000552.5:c.1534-34C= MANE Select | NP_000543.3:n.1534-34C= |