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