Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34271200C>G , CM000679.2:g.34271200C>G | GRCh38 |
| NC_000017.10:g.32598219C>G , CM000679.1:g.32598219C>G | GRCh37 |
| NC_000017.9:g.29622332C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006273.4:c.131C>G MANE Select | NP_006264.2:p.Pro44Arg |
| ENST00000378569.2:c.131C>G MANE Select | ENSP00000367832.2:p.Pro44Arg |
| NM_006273.3:c.131C>G | NP_006264.2:p.Pro44Arg |
| ENST00000394627.5:c.184C>G | ENSP00000378124.1:p.Leu62Val |
| ENST00000394630.3:c.77-497C>G | ENSP00000378126.3:n.77-497C>G |