Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25207042G>A , CM000684.2:g.25207042G>A | GRCh38 |
| NC_000022.10:g.25603009G>A , CM000684.1:g.25603009G>A | GRCh37 |
| NC_000022.9:g.23933009G>A | NCBI36 |
| NG_009828.1:g.12185G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004076.5:c.471-5G>A MANE Select | NP_004067.1:n.471-5G>A |
| ENST00000215855.7:c.471-5G>A MANE Select | ENSP00000215855.2:n.471-5G>A |
| NM_004076.4:c.471-5G>A | NP_004067.1:n.471-5G>A |
| ENST00000215855.6:c.471-5G>A | ENSP00000215855.2:n.471-5G>A |
| ENST00000404334.1:c.328-5G>A | ENSP00000386123.1:n.328-5G>A |
| XM_011529902.1:c.639-5G>A | XP_011528204.1:n.639-5G>A |
| XM_011529902.3:c.639-5G>A | XP_011528204.1:n.639-5G>A |
| XM_017028599.2:c.496-5G>A | XP_016884088.1:n.496-5G>A |