Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25207069G= , CM000684.2:g.25207069G= | GRCh38 |
| NC_000022.10:g.25603036G= , CM000684.1:g.25603036G= | GRCh37 |
| NC_000022.9:g.23933036G= | NCBI36 |
| NG_009828.1:g.12212G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004076.5:c.493G= MANE Select | NP_004067.1:p.Gly165= |
| ENST00000215855.7:c.493G= MANE Select | ENSP00000215855.2:p.Gly165= |
| NM_004076.4:c.493G= | NP_004067.1:p.Gly165= |
| ENST00000215855.6:c.493G= | ENSP00000215855.2:p.Gly165= |
| ENST00000404334.1:c.*8G= | ENSP00000386123.1:n.*8G= |
| XM_011529902.1:c.661G= | XP_011528204.1:p.Gly221= |
| XM_011529902.3:c.661G= | XP_011528204.1:p.Gly221= |
| XM_017028599.2:c.*8G= | XP_016884088.1:n.*8G= |