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