Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179082181C>G , CM000663.2:g.179082181C>G | GRCh38 |
| NC_000001.10:g.179051316C>G , CM000663.1:g.179051316C>G | GRCh37 |
| NC_000001.9:g.177317939C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367627.8:c.53C>G MANE Select | ENSP00000356599.3:p.Pro18Arg | |
| ENST00000352445.10:c.53C>G | ENSP00000335351.6:p.Pro18Arg | |
| ENST00000367625.8:c.53C>G | ENSP00000356597.4:p.Pro18Arg | |
| ENST00000367627.7:c.53C>G | ENSP00000356599.3:p.Pro18Arg | |
| ENST00000472001.1:n.1C>G | ||
| ENST00000483887.1:c.53C>G | ENSP00000435744.1:p.Pro18Arg | |
| NM_022371.3:c.53C>G | NP_071766.2:p.Pro18Arg | |
| NM_022371.4:c.53C>G MANE Select | NP_071766.2:p.Pro18Arg |