dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.112403236C>G , CM000685.2:g.112403236C>G | GRCh38 |
| NC_000023.10:g.111646464C>G , CM000685.1:g.111646464C>G | GRCh37 |
| NC_000023.9:g.111533120C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340433.4:c.-284-27878C>G | ENSP00000340590.2:n.-284-27878C>G | |
| ENST00000695808.1:c.-229-51264C>G | ENSP00000512188.1:n.-229-51264C>G | |
| ENST00000695839.1:c.-284-27878C>G MANE Select | ENSP00000512211.1:n.-284-27878C>G | |
| NM_001004308.2:c.-229-51264C>G | NP_001004308.2:n.-229-51264C>G | |
| NM_001004308.3:c.-229-51264C>G | NP_001004308.2:n.-229-51264C>G | |
| NM_001395362.2:c.-284-27878C>G MANE Select | NP_001382291.1:n.-284-27878C>G |