Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93587522T>A , CM000672.2:g.93587522T>A | GRCh38 |
| NC_000010.10:g.95347279T>A , CM000672.1:g.95347279T>A | GRCh37 |
| NC_000010.9:g.95337269T>A | NCBI36 |
| NG_032670.1:g.25858T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371481.9:c.999T>A MANE Select | ENSP00000360536.5:p.Ile333= | |
| ENST00000371481.8:c.999T>A | ENSP00000360536.4:p.Ile333= | |
| ENST00000371483.8:c.1047T>A | ENSP00000360538.4:p.Ile349= | |
| ENST00000604414.1:c.696+11303T>A | ENSP00000474477.1:n.696+11303T>A | |
| NM_001195755.1:c.999T>A | NP_001182684.1:p.Ile333= | |
| NM_181745.3:c.1047T>A | NP_859529.2:p.Ile349= | |
| NM_001195755.2:c.999T>A MANE Select | NP_001182684.1:p.Ile333= | |
| NM_181745.4:c.1047T>A | NP_859529.2:p.Ile349= |