Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48644723A>G , CM000677.2:g.48644723A>G | GRCh38 |
| NC_000015.9:g.48936920A>G , CM000677.1:g.48936920A>G | GRCh37 |
| NC_000015.8:g.46724212A>G | NCBI36 |
| NG_008805.2:g.6066T>C , LRG_778:g.6066T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.47T>C MANE Select | NP_000129.3:p.Leu16Pro |
| ENST00000316623.10:c.47T>C MANE Select | ENSP00000325527.5:p.Leu16Pro |
| NM_000138.4:c.47T>C , LRG_778t1:c.47T>C | NP_000129.3:p.Leu16Pro |
| ENST00000316623.9:c.47T>C | ENSP00000325527.5:p.Leu16Pro |
| ENST00000537463.6:c.47T>C | ENSP00000440294.2:p.Leu16Pro |
| ENST00000558230.1:n.110T>C | |
| ENST00000559133.6:c.47T>C | ENSP00000453958.2:p.Leu16Pro |
| ENST00000560355.1:c.47T>C | ENSP00000453901.1:p.Leu16Pro |
| ENST00000674301.2:c.47T>C | ENSP00000501333.2:p.Leu16Pro |