Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075039C>A , CM000664.2:g.38075039C>A | GRCh38 |
| NC_000002.11:g.38302182C>A , CM000664.1:g.38302182C>A | GRCh37 |
| NC_000002.10:g.38155686C>A | NCBI36 |
| NG_008386.2:g.6063G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.350G>T | ENSP00000478839.2:p.Arg117Leu | |
| ENST00000610745.5:c.350G>T MANE Select | ENSP00000478561.1:p.Arg117Leu | |
| ENST00000490576.1:c.350G>T | ENSP00000478839.1:p.Arg117Leu | |
| ENST00000494864.1:c.-70-3729G>T | ENSP00000479876.1:n.-70-3729G>T | |
| ENST00000610745.4:c.350G>T | ENSP00000478561.1:p.Arg117Leu | |
| ENST00000613082.1:n.376-631G>T | ||
| ENST00000614273.1:c.350G>T | ENSP00000483678.1:p.Arg117Leu | |
| NM_000104.3:c.350G>T | NP_000095.2:p.Arg117Leu | |
| NM_000104.4:c.350G>T MANE Select | NP_000095.2:p.Arg117Leu |