Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215743149C>A , CM000663.2:g.215743149C>A | GRCh38 |
| NC_000001.10:g.215916491C>A , CM000663.1:g.215916491C>A | GRCh37 |
| NC_000001.9:g.213983114C>A | NCBI36 |
| NG_009497.1:g.685248G>T | |
| NG_009497.2:g.685300G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11548+28G>T MANE Select | ENSP00000305941.3:n.11548+28G>T | |
| ENST00000674083.1:c.11548+28G>T | ENSP00000501296.1:n.11548+28G>T | |
| ENST00000307340.7:c.11548+28G>T | ENSP00000305941.3:n.11548+28G>T | |
| NM_206933.2:c.11548+28G>T | NP_996816.2:n.11548+28G>T | |
| NM_206933.3:c.11548+28G>T | NP_996816.2:n.11548+28G>T | |
| NM_206933.4:c.11548+28G>T MANE Select | NP_996816.3:n.11548+28G>T |