HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659190T>G , CM000685.2:g.136659190T>G | GRCh38 |
NC_000023.10:g.135741349T>G , CM000685.1:g.135741349T>G | GRCh37 |
NC_000023.9:g.135569015T>G | NCBI36 |
NG_007280.1:g.16014T>G , LRG_141:g.16014T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*179T>G | ENSP00000512122.1:n.*179T>G | |
ENST00000695725.1:c.*116T>G | ENSP00000512123.1:n.*116T>G | |
ENST00000695726.1:n.2529T>G | ||
ENST00000695729.1:n.3364T>G | ||
ENST00000370629.7:c.561T>G MANE Select | ENSP00000359663.2:p.Ala187= | |
ENST00000370628.2:c.498T>G | ENSP00000359662.2:p.Ala166= | |
ENST00000370629.6:c.561T>G | ENSP00000359663.2:p.Ala187= | |
NM_000074.2:c.561T>G , LRG_141t1:c.561T>G | NP_000065.1:p.Ala187= | |
NM_000074.3:c.561T>G MANE Select | NP_000065.1:p.Ala187= |