Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370656T>C , CM000683.2:g.34370656T>C | GRCh38 |
| NC_000021.8:g.35742955T>C , CM000683.1:g.35742955T>C | GRCh37 |
| NC_000021.7:g.34664825T>C | NCBI36 |
| NG_008804.1:g.11633T>C , LRG_291:g.11633T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.178T>C MANE Select | ENSP00000290310.2:p.Phe60Leu | |
| ENST00000290310.3:c.178T>C | ENSP00000290310.2:p.Phe60Leu | |
| NM_172201.1:c.178T>C , LRG_291t1:c.178T>C | NP_751951.1:p.Phe60Leu | |
| XR_937683.1:n.665A>G | ||
| XR_937684.1:n.665A>G | ||
| XR_001755012.2:n.786A>G | ||
| XR_001755013.2:n.665A>G | ||
| XR_937683.2:n.665A>G | ||
| NM_172201.2:c.178T>C MANE Select | NP_751951.1:p.Phe60Leu |