Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003482T>G , CM000676.2:g.75003482T>G | GRCh38 |
| NC_000014.8:g.75470185T>G , CM000676.1:g.75470185T>G | GRCh37 |
| NC_000014.7:g.74539938T>G | NCBI36 |
| NG_013333.1:g.5574T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.285-69T>G MANE Select | ENSP00000266126.5:n.285-69T>G | |
| ENST00000266126.9:c.285-69T>G | ENSP00000266126.5:n.285-69T>G | |
| ENST00000553401.5:c.258-69T>G | ENSP00000451681.1:n.258-69T>G | |
| ENST00000553539.1:n.511T>G | ||
| ENST00000555522.1:n.343-69T>G | ||
| ENST00000556028.5:c.285-69T>G | ENSP00000452311.1:n.285-69T>G | |
| NM_014239.3:c.285-69T>G | NP_055054.1:n.285-69T>G | |
| NM_014239.4:c.285-69T>G MANE Select | NP_055054.1:n.285-69T>G |