HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31572294G>A , CM000668.2:g.31572294G>A | GRCh38 |
NC_000006.11:g.31540071G>A , CM000668.1:g.31540071G>A | GRCh37 |
NC_000006.10:g.31648050G>A | NCBI36 |
NG_007462.1:g.1722G>A | |
NG_012010.1:g.5196G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000418386.3:c.-162G>A MANE Select | ENSP00000413450.2:n.-162G>A | |
ENST00000418386.2:c.-162G>A | ENSP00000413450.2:n.-162G>A | |
ENST00000454783.5:c.-18G>A | ENSP00000403495.1:n.-18G>A | |
ENST00000471842.1:n.1G>A | ||
ENST00000489638.5:n.25G>A | ||
NM_000595.3:c.-162G>A | NP_000586.2:n.-162G>A | |
NM_001159740.2:c.-18G>A | NP_001153212.1:n.-18G>A | |
XM_011514614.1:c.-18G>A | XP_011512916.1:n.-18G>A | |
XM_011514615.1:c.-18G>A | XP_011512917.1:n.-18G>A | |
XM_011514616.1:c.-18G>A | XP_011512918.1:n.-18G>A | |
XM_011514617.1:c.-18G>A | XP_011512919.1:n.-18G>A | |
XM_011514618.1:c.-18G>A | XP_011512920.1:n.-18G>A | |
XR_926695.1:n.116+289C>T | ||
NR_149045.1:n.121+289C>T | ||
XM_011514615.2:c.-18G>A | XP_011512917.1:n.-18G>A | |
XM_011514616.2:c.-18G>A | XP_011512918.1:n.-18G>A | |
XM_011514617.2:c.-18G>A | XP_011512919.1:n.-18G>A | |
NM_000595.4:c.-162G>A MANE Select | NP_000586.2:n.-162G>A |