Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25207143G>A , CM000684.2:g.25207143G>A | GRCh38 |
| NC_000022.10:g.25603110G>A , CM000684.1:g.25603110G>A | GRCh37 |
| NC_000022.9:g.23933110G>A | NCBI36 |
| NG_009828.1:g.12286G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004076.5:c.567G>A MANE Select | NP_004067.1:p.Pro189= |
| ENST00000215855.7:c.567G>A MANE Select | ENSP00000215855.2:p.Pro189= |
| NM_004076.4:c.567G>A | NP_004067.1:p.Pro189= |
| ENST00000215855.6:c.567G>A | ENSP00000215855.2:p.Pro189= |
| ENST00000404334.1:c.*82G>A | ENSP00000386123.1:n.*82G>A |
| XM_011529902.1:c.735G>A | XP_011528204.1:p.Pro245= |
| XM_011529902.3:c.735G>A | XP_011528204.1:p.Pro245= |
| XM_017028599.2:c.*82G>A | XP_016884088.1:n.*82G>A |