HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48342685T>G , CM000675.2:g.48342685T>G | GRCh38 |
NC_000013.10:g.48916821T>G , CM000675.1:g.48916821T>G | GRCh37 |
NC_000013.9:g.47814822T>G | NCBI36 |
NG_009009.1:g.43939T>G , LRG_517:g.43939T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.351T>G MANE Select | ENSP00000267163.4:p.Phe117Leu | |
ENST00000650461.1:c.351T>G | ENSP00000497193.1:p.Phe117Leu | |
ENST00000267163.4:c.351T>G | ENSP00000267163.4:p.Phe117Leu | |
ENST00000467505.5:c.138-17332T>G | ENSP00000434702.1:n.138-17332T>G | |
ENST00000525036.1:n.513T>G | ||
NM_000321.2:c.351T>G , LRG_517t1:c.351T>G | NP_000312.2:p.Phe117Leu | |
XM_011535171.1:c.90T>G | XP_011533473.1:p.Phe30Leu | |
XM_011535171.2:c.90T>G | XP_011533473.1:p.Phe30Leu | |
NM_000321.3:c.351T>G MANE Select | NP_000312.2:p.Phe117Leu |