Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68371823T>A , CM000664.2:g.68371823T>A | GRCh38 |
| NC_000002.11:g.68598955T>A , CM000664.1:g.68598955T>A | GRCh37 |
| NC_000002.10:g.68452459T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002664.3:c.42+6430T>A MANE Select | NP_002655.2:n.42+6430T>A |
| ENST00000234313.8:c.42+6430T>A MANE Select | ENSP00000234313.7:n.42+6430T>A |
| NM_002664.2:c.42+6430T>A | NP_002655.2:n.42+6430T>A |
| ENST00000234313.7:c.42+6430T>A | ENSP00000234313.7:n.42+6430T>A |
| XM_011532916.1:c.42+6430T>A | XP_011531218.1:n.42+6430T>A |