HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519136T>G , CM000674.2:g.52519136T>G | GRCh38 |
NC_000012.11:g.52912920T>G , CM000674.1:g.52912920T>G | GRCh37 |
NC_000012.10:g.51199187T>G | NCBI36 |
NG_008297.1:g.6324A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.580A>C MANE Select | ENSP00000252242.4:p.Lys194Gln | |
ENST00000252242.8:c.580A>C | ENSP00000252242.4:p.Lys194Gln | |
ENST00000549420.1:c.250A>C | ENSP00000447209.1:p.Lys84Gln | |
ENST00000551013.1:n.108A>C | ||
ENST00000552629.5:n.678A>C | ||
NM_000424.3:c.580A>C | NP_000415.2:p.Lys194Gln | |
NM_000424.4:c.580A>C MANE Select | NP_000415.2:p.Lys194Gln |