Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50139997A>T , CM000676.2:g.50139997A>T | GRCh38 |
| NC_000014.8:g.50606715A>T , CM000676.1:g.50606715A>T | GRCh37 |
| NC_000014.7:g.49676465A>T | NCBI36 |
| NG_051073.1:g.96697T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.2730T>A MANE Select | NP_008870.2:p.Phe910Leu |
| ENST00000216373.10:c.2730T>A MANE Select | ENSP00000216373.5:p.Phe910Leu |
| NM_006939.2:c.2730T>A | NP_008870.2:p.Phe910Leu |
| NM_006939.3:c.2730T>A | NP_008870.2:p.Phe910Leu |
| ENST00000216373.9:c.2730T>A | ENSP00000216373.5:p.Phe910Leu |
| ENST00000543680.5:c.2631T>A | ENSP00000445328.1:p.Phe877Leu |
| XM_005268021.1:c.2550T>A | XP_005268078.1:p.Phe850Leu |
| XM_011537103.1:c.2691T>A | XP_011535405.1:p.Phe897Leu |
| XM_011537104.1:c.2730T>A | XP_011535406.1:p.Phe910Leu |