Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128247213C>A , CM000669.2:g.128247213C>A | GRCh38 |
| NC_000007.13:g.127887266C>A , CM000669.1:g.127887266C>A | GRCh37 |
| NC_000007.12:g.127674502C>A | NCBI36 |
| NG_007450.1:g.10936C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308868.5:c.-28-4778C>A MANE Select | ENSP00000312652.4:n.-28-4778C>A | |
| ENST00000308868.4:c.-28-4778C>A | ENSP00000312652.4:n.-28-4778C>A | |
| NM_000230.2:c.-28-4778C>A | NP_000221.1:n.-28-4778C>A | |
| XM_005250340.3:c.-28-4778C>A | XP_005250397.1:n.-28-4778C>A | |
| XM_005250340.5:c.-28-4778C>A | XP_005250397.1:n.-28-4778C>A | |
| NM_000230.3:c.-28-4778C>A MANE Select | NP_000221.1:n.-28-4778C>A |