Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28357762G>T , CM000679.2:g.28357762G>T | GRCh38 |
| NC_000017.10:g.26684785G>T , CM000679.1:g.26684785G>T | GRCh37 |
| NC_000017.9:g.23708912G>T | NCBI36 |
| NG_046803.1:g.5182G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152464.3:c.92G>T MANE Select | NP_689677.1:p.Arg31Leu |
| ENST00000292114.8:c.92G>T MANE Select | ENSP00000292114.3:p.Arg31Leu |
| NM_152464.2:c.92G>T | NP_689677.1:p.Arg31Leu |
| ENST00000292114.7:c.92G>T | ENSP00000292114.3:p.Arg31Leu |
| ENST00000483505.6:n.55G>T | |
| ENST00000555264.6:c.92G>T | ENSP00000462356.1:p.Arg31Leu |
| ENST00000579762.1:n.111G>T | |
| ENST00000580868.5:c.92G>T | ENSP00000462195.1:p.Arg31Leu |
| ENST00000581386.5:n.106G>T |