Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2516274T>C , CM000682.2:g.2516274T>C | GRCh38 |
| NC_000020.10:g.2496920T>C , CM000682.1:g.2496920T>C | GRCh37 |
| NC_000020.9:g.2444920T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358413.6:c.-347+8181A>G | ENSP00000351188.2:n.-347+8181A>G | |
| ENST00000445484.5:c.-347+8181A>G | ENSP00000399682.1:n.-347+8181A>G | |
| ENST00000612935.4:c.-347+8181A>G | ENSP00000482819.1:n.-347+8181A>G | |
| NM_001282495.1:c.-347+8181A>G | NP_001269424.1:n.-347+8181A>G |