Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084444A= , CM000685.2:g.108084444A= | GRCh38 |
| NC_000023.10:g.107327674A= , CM000685.1:g.107327674A= | GRCh37 |
| NC_000023.9:g.107214330A= | NCBI36 |
| NG_012521.1:g.12175T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*530T= MANE Select | ENSP00000217958.3:n.*530T= | |
| ENST00000217958.7:c.*530T= | ENSP00000217958.3:n.*530T= | |
| NM_002814.3:c.*530T= | NP_002805.1:n.*530T= | |
| NM_170750.2:c.*676T= | NP_736606.1:n.*676T= | |
| NM_002814.4:c.*530T= MANE Select | NP_002805.1:n.*530T= | |
| NM_170750.3:c.*676T= | NP_736606.1:n.*676T= |