HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50153134A>C , CM000676.2:g.50153134A>C | GRCh38 |
NC_000014.8:g.50619852A>C , CM000676.1:g.50619852A>C | GRCh37 |
NC_000014.7:g.49689602A>C | NCBI36 |
NG_051073.1:g.83560T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216373.10:c.2097T>G MANE Select | ENSP00000216373.5:p.Phe699Leu | |
ENST00000216373.9:c.2097T>G | ENSP00000216373.5:p.Phe699Leu | |
ENST00000543680.5:c.1998T>G | ENSP00000445328.1:p.Phe666Leu | |
NM_006939.2:c.2097T>G | NP_008870.2:p.Phe699Leu | |
XM_005268021.1:c.1917T>G | XP_005268078.1:p.Phe639Leu | |
XM_011537103.1:c.2058T>G | XP_011535405.1:p.Phe686Leu | |
XM_011537104.1:c.2097T>G | XP_011535406.1:p.Phe699Leu | |
NM_006939.3:c.2097T>G | NP_008870.2:p.Phe699Leu | |
NM_006939.4:c.2097T>G MANE Select | NP_008870.2:p.Phe699Leu |