Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50150128G>A , CM000676.2:g.50150128G>A | GRCh38 |
| NC_000014.8:g.50616846G>A , CM000676.1:g.50616846G>A | GRCh37 |
| NC_000014.7:g.49686596G>A | NCBI36 |
| NG_051073.1:g.86566C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.2264C>T MANE Select | NP_008870.2:p.Pro755Leu |
| ENST00000216373.10:c.2264C>T MANE Select | ENSP00000216373.5:p.Pro755Leu |
| NM_006939.2:c.2264C>T | NP_008870.2:p.Pro755Leu |
| NM_006939.3:c.2264C>T | NP_008870.2:p.Pro755Leu |
| ENST00000216373.9:c.2264C>T | ENSP00000216373.5:p.Pro755Leu |
| ENST00000543680.5:c.2165C>T | ENSP00000445328.1:p.Pro722Leu |
| XM_005268021.1:c.2084C>T | XP_005268078.1:p.Pro695Leu |
| XM_011537103.1:c.2225C>T | XP_011535405.1:p.Pro742Leu |
| XM_011537104.1:c.2264C>T | XP_011535406.1:p.Pro755Leu |