Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144059758C>T , CM000670.2:g.144059758C>T | GRCh38 |
| NC_000008.10:g.145114661C>T , CM000670.1:g.145114661C>T | GRCh37 |
| NC_000008.9:g.145186649C>T | NCBI36 |
| NG_032671.1:g.5924G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017570.5:c.204G>A MANE Select | NP_060040.1:p.Pro68= |
| ENST00000618853.5:c.204G>A MANE Select | ENSP00000480476.1:p.Pro68= |
| NM_017570.4:c.204G>A | NP_060040.1:p.Pro68= |
| ENST00000567871.1:c.204G>A | ENSP00000481640.1:p.Pro68= |
| ENST00000567871.2:c.492G>A | ENSP00000481640.2:p.Pro164= |
| ENST00000618853.4:c.204G>A | ENSP00000480476.1:p.Pro68= |
| XM_011516960.1:c.492G>A | XP_011515262.1:p.Pro164= |
| XM_011516961.1:c.492G>A | XP_011515263.1:p.Pro164= |
| XR_001745509.1:n.584G>A |