Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186672715A= , CM000663.2:g.186672715A= | GRCh38 |
| NC_000001.10:g.186641847A= , CM000663.1:g.186641847A= | GRCh37 |
| NC_000001.9:g.184908470A= | NCBI36 |
| NG_028206.2:g.12713T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000963.4:c.*1638T= MANE Select | NP_000954.1:n.*1638T= |
| ENST00000367468.10:c.*1638T= MANE Select | ENSP00000356438.5:n.*1638T= |
| NM_000963.3:c.*1638T= | NP_000954.1:n.*1638T= |
| ENST00000367468.9:c.*1638T= | ENSP00000356438.5:n.*1638T= |
| ENST00000680451.1:c.*1638T= | ENSP00000506242.1:n.*1638T= |
| ENST00000681605.1:c.*3125T= | ENSP00000504900.1:n.*3125T= |