HGVS | Genome Assembly |
---|---|
NC_000004.12:g.147542688G>A , CM000666.2:g.147542688G>A | GRCh38 |
NC_000004.11:g.148463840G>A , CM000666.1:g.148463840G>A | GRCh37 |
NC_000004.10:g.148683290G>A | NCBI36 |
NG_013343.1:g.66772G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000324300.10:c.*70G>A | ENSP00000315011.5:n.*70G>A | |
ENST00000648866.1:c.*70G>A | ENSP00000496976.1:n.*70G>A | |
ENST00000651419.1:c.*70G>A MANE Select | ENSP00000498969.1:n.*70G>A | |
ENST00000324300.9:c.*70G>A | ENSP00000315011.5:n.*70G>A | |
ENST00000358556.8:c.*70G>A | ENSP00000351359.4:n.*70G>A | |
ENST00000503721.1:n.894G>A | ||
ENST00000506066.1:c.1027G>A | ENSP00000425281.1:n.1027G>A | |
ENST00000510697.5:c.1155G>A | ENSP00000427259.1:n.1155G>A | |
ENST00000511804.5:c.*70G>A | ENSP00000425354.1:n.*70G>A | |
NM_001166055.1:c.*70G>A | NP_001159527.1:n.*70G>A | |
NM_001256283.1:c.*70G>A | NP_001243212.1:n.*70G>A | |
NM_001957.3:c.*70G>A | NP_001948.1:n.*70G>A | |
NR_045958.1:n.1685G>A | ||
NR_148963.1:n.1394G>A | ||
NR_148964.1:n.1195G>A | ||
NM_001957.4:c.*70G>A MANE Select | NP_001948.1:n.*70G>A | |
NR_045958.2:n.1505G>A | ||
NR_148963.2:n.1214G>A | ||
NR_148964.2:n.1015G>A | ||
NM_001166055.2:c.*70G>A | NP_001159527.1:n.*70G>A |