Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51912243C>G , CM000674.2:g.51912243C>G | GRCh38 |
| NC_000012.11:g.52306027C>G , CM000674.1:g.52306027C>G | GRCh37 |
| NC_000012.10:g.50592294C>G | NCBI36 |
| NG_009549.1:g.9826C>G , LRG_543:g.9826C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000020.3:c.-5-227C>G MANE Select | NP_000011.2:n.-5-227C>G |
| ENST00000388922.9:c.-5-227C>G MANE Select | ENSP00000373574.4:n.-5-227C>G |
| NM_000020.2:c.-5-227C>G , LRG_543t1:c.-5-227C>G | NP_000011.2:n.-5-227C>G |
| ENST00000388922.8:c.-5-227C>G | ENSP00000373574.4:n.-5-227C>G |
| ENST00000551576.5:c.-5-227C>G | ENSP00000455848.1:n.-5-227C>G |
| ENST00000551576.6:c.-5-227C>G | ENSP00000455848.2:n.-5-227C>G |
| ENST00000552678.2:c.-5-227C>G | ENSP00000457394.2:n.-5-227C>G |
| XM_005269235.2:c.-5-227C>G | XP_005269292.1:n.-5-227C>G |