Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758247T>G , CM000673.2:g.64758247T>G | GRCh38 |
| NC_000011.9:g.64525719T>G , CM000673.1:g.64525719T>G | GRCh37 |
| NC_000011.8:g.64282295T>G | NCBI36 |
| NG_013018.1:g.7469A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.527A>C MANE Select | NP_005600.1:p.Gln176Pro |
| ENST00000164139.4:c.527A>C MANE Select | ENSP00000164139.3:p.Gln176Pro |
| NM_001164716.1:c.263A>C | NP_001158188.1:p.Gln88Pro |
| NM_005609.2:c.527A>C | NP_005600.1:p.Gln176Pro |
| NM_005609.3:c.527A>C | NP_005600.1:p.Gln176Pro |
| ENST00000164139.3:c.527A>C | ENSP00000164139.3:p.Gln176Pro |
| ENST00000377432.7:c.263A>C | ENSP00000366650.3:p.Gln88Pro |