Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103477009T>C , CM000663.2:g.103477009T>C | GRCh38 |
| NC_000001.10:g.104019631T>C , CM000663.1:g.104019631T>C | GRCh37 |
| NC_000001.9:g.103792219T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001286997.1:c.-34-43913A>G | NP_001273926.1:n.-34-43913A>G | |
| NM_001286997.2:c.-34-43913A>G | NP_001273926.1:n.-34-43913A>G | |
| NM_001347929.1:c.-83-7619A>G | NP_001334858.1:n.-83-7619A>G | |
| NM_001347930.1:c.-34-43913A>G | NP_001334859.1:n.-34-43913A>G | |
| NR_168319.1:n.114-7619A>G | ||
| NR_168320.1:n.114-43913A>G | ||
| NR_168321.1:n.114-43913A>G |