Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16131989C>A , CM000663.2:g.16131989C>A | GRCh38 |
| NC_000001.10:g.16458484C>A , CM000663.1:g.16458484C>A | GRCh37 |
| NC_000001.9:g.16331071C>A | NCBI36 |
| NG_021396.1:g.29099G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.2325+75G>T MANE Select | ENSP00000351209.5:n.2325+75G>T | |
| ENST00000358432.7:c.2325+75G>T | ENSP00000351209.5:n.2325+75G>T | |
| NM_004431.3:c.2325+75G>T | NP_004422.2:n.2325+75G>T | |
| NM_001329090.1:c.2163+75G>T | NP_001316019.1:n.2163+75G>T | |
| NM_004431.4:c.2325+75G>T | NP_004422.2:n.2325+75G>T | |
| NM_004431.5:c.2325+75G>T MANE Select | NP_004422.2:n.2325+75G>T | |
| NM_001329090.2:c.2163+75G>T | NP_001316019.1:n.2163+75G>T |