Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156767745C>T , CM000667.2:g.156767745C>T | GRCh38 |
| NC_000005.9:g.156194756C>T , CM000667.1:g.156194756C>T | GRCh37 |
| NC_000005.8:g.156127334C>T | NCBI36 |
| NG_008693.2:g.902403C>T , LRG_205:g.902403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.*8355C>T MANE Select | ENSP00000338343.4:n.*8355C>T | |
| ENST00000435422.7:c.*8355C>T | ENSP00000403003.2:n.*8355C>T | |
| NM_000337.5:c.*8355C>T , LRG_205t1:c.*8355C>T | NP_000328.2:n.*8355C>T | |
| NM_001128209.1:c.*8355C>T | NP_001121681.1:n.*8355C>T | |
| NM_001128209.2:c.*8355C>T | NP_001121681.1:n.*8355C>T | |
| NM_000337.6:c.*8355C>T MANE Select | NP_000328.2:n.*8355C>T |