dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.134209559A>C , CM000668.2:g.134209559A>C | GRCh38 |
| NC_000006.11:g.134530697A>C , CM000668.1:g.134530697A>C | GRCh37 |
| NC_000006.10:g.134572390A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367858.10:c.286-2128T>G MANE Select | ENSP00000356832.5:n.286-2128T>G | |
| ENST00000367858.9:c.286-2128T>G | ENSP00000356832.5:n.286-2128T>G | |
| ENST00000461976.2:c.193-2128T>G | ENSP00000435577.1:n.193-2128T>G | |
| ENST00000484353.1:n.86-2128T>G | ||
| ENST00000524387.5:n.69-2128T>G | ||
| ENST00000531575.5:n.86-2128T>G | ||
| NM_001143676.1:c.286-2128T>G | NP_001137148.1:n.286-2128T>G | |
| XM_011536071.1:c.286-2128T>G | XP_011534373.1:n.286-2128T>G | |
| NM_001143676.3:c.286-2128T>G MANE Select | NP_001137148.1:n.286-2128T>G |