Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111246290T>G , CM000664.2:g.111246290T>G | GRCh38 |
| NC_000002.11:g.112003867T>G , CM000664.1:g.112003867T>G | GRCh37 |
| NC_000002.10:g.111720338T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_015395.2:n.2470-6294A>C | |
| NR_136161.1:n.637+1858A>C | |
| NR_136162.1:n.2470-12551A>C | |
| NR_136163.1:n.637+1858A>C | |
| NR_136164.1:n.544-37629A>C | |
| NR_136165.1:n.548+1858A>C | |
| NR_136166.1:n.2470-12551A>C | |
| XM_011512259.1:c.-309+1858A>C | XP_011510561.1:n.-309+1858A>C |
| XM_011512260.1:c.-114+1858A>C | XP_011510562.1:n.-114+1858A>C |
| XM_011512261.1:c.-2+1858A>C | XP_011510563.1:n.-2+1858A>C |