HGVS | Genome Assembly |
---|---|
NC_000003.12:g.9890792G>C , CM000665.2:g.9890792G>C | GRCh38 |
NC_000003.11:g.9932476G>C , CM000665.1:g.9932476G>C | GRCh37 |
NC_000003.10:g.9907476G>C | NCBI36 |
NG_041779.1:g.5206G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000489724.2:c.70G>C | ENSP00000497724.1:p.Ala24Pro | |
ENST00000647897.1:c.70G>C MANE Select | ENSP00000496942.1:p.Ala24Pro | |
ENST00000307768.4:c.70G>C | ENSP00000306106.4:p.Ala24Pro | |
ENST00000489724.1:n.160G>C | ||
ENST00000616966.2:c.70G>C | ENSP00000481606.1:p.Ala24Pro | |
NM_032492.3:c.70G>C | NP_115881.3:p.Ala24Pro | |
NM_001363890.1:c.-199G>C | NP_001350819.1:n.-199G>C | |
NM_032492.4:c.70G>C MANE Select | NP_115881.3:p.Ala24Pro |