HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659251G>T , CM000685.2:g.136659251G>T | GRCh38 |
NC_000023.10:g.135741410G>T , CM000685.1:g.135741410G>T | GRCh37 |
NC_000023.9:g.135569076G>T | NCBI36 |
NG_007280.1:g.16075G>T , LRG_141:g.16075G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.*240G>T | ENSP00000512122.1:n.*240G>T | |
ENST00000695725.1:c.*177G>T | ENSP00000512123.1:n.*177G>T | |
ENST00000695726.1:n.2590G>T | ||
ENST00000695729.1:n.3425G>T | ||
ENST00000370629.7:c.622G>T MANE Select | ENSP00000359663.2:p.Ala208Ser | |
ENST00000370628.2:c.559G>T | ENSP00000359662.2:p.Ala187Ser | |
ENST00000370629.6:c.622G>T | ENSP00000359663.2:p.Ala208Ser | |
NM_000074.2:c.622G>T , LRG_141t1:c.622G>T | NP_000065.1:p.Ala208Ser | |
NM_000074.3:c.622G>T MANE Select | NP_000065.1:p.Ala208Ser |