Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50150063G>A , CM000676.2:g.50150063G>A | GRCh38 |
| NC_000014.8:g.50616781G>A , CM000676.1:g.50616781G>A | GRCh37 |
| NC_000014.7:g.49686531G>A | NCBI36 |
| NG_051073.1:g.86631C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.2329C>T MANE Select | NP_008870.2:p.Leu777Phe |
| ENST00000216373.10:c.2329C>T MANE Select | ENSP00000216373.5:p.Leu777Phe |
| NM_006939.2:c.2329C>T | NP_008870.2:p.Leu777Phe |
| NM_006939.3:c.2329C>T | NP_008870.2:p.Leu777Phe |
| ENST00000216373.9:c.2329C>T | ENSP00000216373.5:p.Leu777Phe |
| ENST00000543680.5:c.2230C>T | ENSP00000445328.1:p.Leu744Phe |
| XM_005268021.1:c.2149C>T | XP_005268078.1:p.Leu717Phe |
| XM_011537103.1:c.2290C>T | XP_011535405.1:p.Leu764Phe |
| XM_011537104.1:c.2329C>T | XP_011535406.1:p.Leu777Phe |