Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370669T>C , CM000683.2:g.34370669T>C | GRCh38 |
| NC_000021.8:g.35742968T>C , CM000683.1:g.35742968T>C | GRCh37 |
| NC_000021.7:g.34664838T>C | NCBI36 |
| NG_008804.1:g.11646T>C , LRG_291:g.11646T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172201.2:c.191T>C MANE Select | NP_751951.1:p.Ile64Thr |
| ENST00000290310.4:c.191T>C MANE Select | ENSP00000290310.2:p.Ile64Thr |
| NM_172201.1:c.191T>C , LRG_291t1:c.191T>C | NP_751951.1:p.Ile64Thr |
| ENST00000290310.3:c.191T>C | ENSP00000290310.2:p.Ile64Thr |
| XR_001755012.2:n.773A>G | |
| XR_001755013.2:n.652A>G | |
| XR_937683.1:n.652A>G | |
| XR_937683.2:n.652A>G | |
| XR_937684.1:n.652A>G |