Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161701908C= , CM000667.2:g.161701908C= | GRCh38 |
| NC_000005.9:g.161128914C= , CM000667.1:g.161128914C= | GRCh37 |
| NC_000005.8:g.161061492C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000811.3:c.*135C= MANE Select | NP_000802.2:n.*135C= |
| ENST00000274545.10:c.*135C= MANE Select | ENSP00000274545.5:n.*135C= |
| NM_000811.2:c.*135C= | NP_000802.2:n.*135C= |
| ENST00000274545.9:c.*135C= | ENSP00000274545.5:n.*135C= |
| ENST00000521520.1:n.1490C= | |
| ENST00000523217.5:c.*135C= | ENSP00000430527.1:n.*135C= |