Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110644604A>T , CM000672.2:g.110644604A>T | GRCh38 |
| NC_000010.10:g.112404362A>T , CM000672.1:g.112404362A>T | GRCh37 |
| NC_000010.9:g.112394352A>T | NCBI36 |
| NG_021177.1:g.5208A>T , LRG_382:g.5208A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001134363.3:c.150A>T MANE Select | NP_001127835.2:p.Pro50= |
| ENST00000369519.4:c.150A>T MANE Select | ENSP00000358532.3:p.Pro50= |
| NM_001134363.2:c.150A>T | NP_001127835.2:p.Pro50= |
| ENST00000369519.3:c.150A>T | ENSP00000358532.3:p.Pro50= |
| XM_017016103.2:c.26+1164A>T | XP_016871592.1:n.26+1164A>T |