Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55396206C>G , CM000666.2:g.55396206C>G | GRCh38 |
| NC_000004.11:g.56262373C>G , CM000666.1:g.56262373C>G | GRCh37 |
| NC_000004.10:g.55957130C>G | NCBI36 |
| NG_032881.1:g.5294C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018475.5:c.17C>G MANE Select | NP_060945.2:p.Pro6Arg |
| ENST00000381334.10:c.17C>G MANE Select | ENSP00000370736.5:p.Pro6Arg |
| NM_018475.4:c.17C>G | NP_060945.2:p.Pro6Arg |
| NR_073070.1:n.294C>G | |
| NR_073070.2:n.250C>G | |
| ENST00000381334.9:c.17C>G | ENSP00000370736.5:p.Pro6Arg |
| ENST00000506198.5:c.17C>G | ENSP00000425449.1:p.Pro6Arg |
| ENST00000508404.5:c.17C>G | ENSP00000422639.1:p.Pro6Arg |
| XM_011534394.1:c.17C>G | XP_011532696.1:p.Pro6Arg |
| XM_011534394.3:c.17C>G | XP_011532696.1:p.Pro6Arg |
| XR_001741287.2:n.554C>G |