HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52029737T>G , CM000666.2:g.52029737T>G | GRCh38 |
NC_000004.11:g.52895903T>G , CM000666.1:g.52895903T>G | GRCh37 |
NC_000004.10:g.52590660T>G | NCBI36 |
NG_008891.1:g.13583A>C , LRG_204:g.13583A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.370A>C MANE Select | ENSP00000370839.6:p.Lys124Gln | |
ENST00000381431.9:c.370A>C | ENSP00000370839.5:p.Lys124Gln | |
ENST00000506357.5:c.453A>C | ||
ENST00000514133.1:c.447A>C | ENSP00000425818.1:n.447A>C | |
NM_000232.4:c.370A>C , LRG_204t1:c.370A>C | NP_000223.1:p.Lys124Gln | |
XM_006714049.2:c.73A>C | XP_006714112.1:p.Lys25Gln | |
XM_011534403.1:c.160A>C | XP_011532705.1:p.Lys54Gln | |
XM_011534404.1:c.73A>C | XP_011532706.1:p.Lys25Gln | |
NM_000232.5:c.370A>C MANE Select | NP_000223.1:p.Lys124Gln |