HGVS | Genome Assembly |
---|---|
NC_000003.12:g.9890792G>T , CM000665.2:g.9890792G>T | GRCh38 |
NC_000003.11:g.9932476G>T , CM000665.1:g.9932476G>T | GRCh37 |
NC_000003.10:g.9907476G>T | NCBI36 |
NG_041779.1:g.5206G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000489724.2:c.70G>T | ENSP00000497724.1:p.Ala24Ser | |
ENST00000647897.1:c.70G>T MANE Select | ENSP00000496942.1:p.Ala24Ser | |
ENST00000307768.4:c.70G>T | ENSP00000306106.4:p.Ala24Ser | |
ENST00000489724.1:n.160G>T | ||
ENST00000616966.2:c.70G>T | ENSP00000481606.1:p.Ala24Ser | |
NM_032492.3:c.70G>T | NP_115881.3:p.Ala24Ser | |
NM_001363890.1:c.-199G>T | NP_001350819.1:n.-199G>T | |
NM_032492.4:c.70G>T MANE Select | NP_115881.3:p.Ala24Ser |