Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10645355C>A , CM000682.2:g.10645355C>A | GRCh38 |
| NC_000020.10:g.10626003C>A , CM000682.1:g.10626003C>A | GRCh37 |
| NC_000020.9:g.10574003C>A | NCBI36 |
| NG_007496.1:g.33692G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2113+1G>T MANE Select | NP_000205.1:n.2113+1G>T |
| ENST00000254958.10:c.2113+1G>T MANE Select | ENSP00000254958.4:n.2113+1G>T |
| NM_000214.2:c.2113+1G>T | NP_000205.1:n.2113+1G>T |
| ENST00000254958.9:c.2113+1G>T | ENSP00000254958.4:n.2113+1G>T |
| ENST00000423891.6:n.1979+1G>T | |
| ENST00000488480.2:n.510+1G>T | |
| ENST00000617965.2:n.2702+1G>T |