Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118790C>A , CM000676.2:g.50118790C>A | GRCh38 |
| NC_000014.8:g.50585508C>A , CM000676.1:g.50585508C>A | GRCh37 |
| NC_000014.7:g.49655258C>A | NCBI36 |
| NG_051073.1:g.117904G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.3553G>T MANE Select | NP_008870.2:p.Val1185Leu |
| ENST00000216373.10:c.3553G>T MANE Select | ENSP00000216373.5:p.Val1185Leu |
| NM_006939.2:c.3553G>T | NP_008870.2:p.Val1185Leu |
| NM_006939.3:c.3553G>T | NP_008870.2:p.Val1185Leu |
| ENST00000216373.9:c.3553G>T | ENSP00000216373.5:p.Val1185Leu |
| ENST00000543680.5:c.3454G>T | ENSP00000445328.1:p.Val1152Leu |
| XM_005268021.1:c.3373G>T | XP_005268078.1:p.Val1125Leu |
| XM_011537103.1:c.3514G>T | XP_011535405.1:p.Val1172Leu |