Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186672065C= , CM000663.2:g.186672065C= | GRCh38 |
| NC_000001.10:g.186641197C= , CM000663.1:g.186641197C= | GRCh37 |
| NC_000001.9:g.184907820C= | NCBI36 |
| NG_028206.2:g.13363G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.*2288G= MANE Select | ENSP00000356438.5:n.*2288G= | |
| ENST00000680451.1:c.*2288G= | ENSP00000506242.1:n.*2288G= | |
| ENST00000681605.1:c.*3775G= | ENSP00000504900.1:n.*3775G= | |
| ENST00000367468.9:c.*2288G= | ENSP00000356438.5:n.*2288G= | |
| NM_000963.3:c.*2288G= | NP_000954.1:n.*2288G= | |
| NM_000963.4:c.*2288G= MANE Select | NP_000954.1:n.*2288G= |