Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882190G>T , CM000664.2:g.218882190G>T | GRCh38 |
| NC_000002.11:g.219746912G>T , CM000664.1:g.219746912G>T | GRCh37 |
| NC_000002.10:g.219455156G>T | NCBI36 |
| NG_012179.1:g.6658G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.143G>T MANE Select | ENSP00000258411.3:p.Arg48Leu | |
| ENST00000258411.7:c.143G>T | ENSP00000258411.3:p.Arg48Leu | |
| ENST00000458582.1:c.30G>T | ||
| NM_025216.2:c.143G>T | NP_079492.2:p.Arg48Leu | |
| XM_011511928.1:c.92G>T | XP_011510230.1:p.Arg31Leu | |
| XM_011511929.1:c.47G>T | XP_011510231.1:p.Arg16Leu | |
| XM_011511930.1:c.143G>T | XP_011510232.1:p.Arg48Leu | |
| XM_011511929.2:c.47G>T | XP_011510231.1:p.Arg16Leu | |
| NM_025216.3:c.143G>T MANE Select | NP_079492.2:p.Arg48Leu |