Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84194804G>T , CM000672.2:g.84194804G>T | GRCh38 |
| NC_000010.10:g.85954560G>T , CM000672.1:g.85954560G>T | GRCh37 |
| NC_000010.9:g.85944540G>T | NCBI36 |
| NG_028034.1:g.5149G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033100.4:c.44G>T MANE Select | NP_149091.1:p.Arg15Leu |
| ENST00000623527.4:c.44G>T MANE Select | ENSP00000485478.1:p.Arg15Leu |
| NM_001171971.2:c.44G>T | NP_001165442.1:p.Arg15Leu |
| NM_001171971.3:c.44G>T | NP_001165442.1:p.Arg15Leu |
| NM_033100.3:c.44G>T | NP_149091.1:p.Arg15Leu |
| ENST00000332904.7:c.44G>T | ENSP00000331063.3:p.Arg15Leu |
| ENST00000623527.3:c.44G>T | ENSP00000485478.1:p.Arg15Leu |
| XM_011540339.1:c.-336G>T | XP_011538641.1:n.-336G>T |