Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.134255326T>C , CM000668.2:g.134255326T>C | GRCh38 |
| NC_000006.11:g.134576464T>C , CM000668.1:g.134576464T>C | GRCh37 |
| NC_000006.10:g.134618157T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367858.10:c.285+6607A>G MANE Select | ENSP00000356832.5:n.285+6607A>G | |
| ENST00000367858.9:c.285+6607A>G | ENSP00000356832.5:n.285+6607A>G | |
| ENST00000460769.1:c.127+6607A>G | ||
| ENST00000461976.2:c.192+6607A>G | ENSP00000435577.1:n.192+6607A>G | |
| ENST00000484353.1:n.85+6607A>G | ||
| NM_001143676.1:c.285+6607A>G | NP_001137148.1:n.285+6607A>G | |
| XM_011536071.1:c.285+6607A>G | XP_011534373.1:n.285+6607A>G | |
| NM_001143676.3:c.285+6607A>G MANE Select | NP_001137148.1:n.285+6607A>G |