Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598596C>G , CM000680.2:g.31598596C>G | GRCh38 |
| NC_000018.9:g.29178559C>G , CM000680.1:g.29178559C>G | GRCh37 |
| NC_000018.8:g.27432557C>G | NCBI36 |
| NG_009490.1:g.11830C>G , LRG_416:g.11830C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000371.4:c.365C>G MANE Select | NP_000362.1:p.Pro122Arg |
| ENST00000237014.8:c.365C>G MANE Select | ENSP00000237014.4:p.Pro122Arg |
| NM_000371.3:c.365C>G , LRG_416t1:c.365C>G | NP_000362.1:p.Pro122Arg |
| ENST00000237014.7:c.365C>G | ENSP00000237014.3:p.Pro122Arg |
| ENST00000610404.4:c.479C>G | ENSP00000477599.1:p.Pro160Arg |
| ENST00000610404.5:c.269C>G | ENSP00000477599.2:p.Pro90Arg |
| ENST00000613781.1:c.365C>G | ENSP00000479174.1:p.Pro122Arg |
| ENST00000649620.1:c.365C>G | ENSP00000497927.1:p.Pro122Arg |