Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154079A>G , CM000681.2:g.55154079A>G | GRCh38 |
| NC_000019.9:g.55665447A>G , CM000681.1:g.55665447A>G | GRCh37 |
| NC_000019.8:g.60357259A>G | NCBI36 |
| NG_007866.2:g.8654T>C , LRG_432:g.8654T>C | |
| NG_011829.2:g.160T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.500T>C MANE Select | NP_000354.4:p.Leu167Pro |
| ENST00000344887.10:c.500T>C MANE Select | ENSP00000341838.5:p.Leu167Pro |
| NM_000363.4:c.500T>C , LRG_432t1:c.500T>C | NP_000354.4:p.Leu167Pro |
| ENST00000344887.9:c.500T>C | ENSP00000341838.5:p.Leu167Pro |
| ENST00000585806.5:n.499T>C | |
| ENST00000588882.1:c.425T>C | ENSP00000466729.1:p.Leu142Pro |
| ENST00000589864.1:n.328T>C | |
| ENST00000665070.1:c.533T>C | ENSP00000499482.1:p.Leu178Pro |