Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370671G>T , CM000683.2:g.34370671G>T | GRCh38 |
| NC_000021.8:g.35742970G>T , CM000683.1:g.35742970G>T | GRCh37 |
| NC_000021.7:g.34664840G>T | NCBI36 |
| NG_008804.1:g.11648G>T , LRG_291:g.11648G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172201.2:c.193G>T MANE Select | NP_751951.1:p.Val65Leu |
| ENST00000290310.4:c.193G>T MANE Select | ENSP00000290310.2:p.Val65Leu |
| NM_172201.1:c.193G>T , LRG_291t1:c.193G>T | NP_751951.1:p.Val65Leu |
| ENST00000290310.3:c.193G>T | ENSP00000290310.2:p.Val65Leu |
| XR_001755012.2:n.771C>A | |
| XR_001755013.2:n.650C>A | |
| XR_937683.1:n.650C>A | |
| XR_937683.2:n.650C>A | |
| XR_937684.1:n.650C>A |