HGVS | Genome Assembly |
---|---|
NC_000022.11:g.30285268C>T , CM000684.2:g.30285268C>T | GRCh38 |
NC_000022.10:g.30681257C>T , CM000684.1:g.30681257C>T | GRCh37 |
NC_000022.9:g.29011257C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000407689.8:c.*352G>A MANE Select | ENSP00000384183.4:n.*352G>A | |
ENST00000330168.9:c.1944G>A | ENSP00000331267.5:n.1944G>A | |
ENST00000404953.7:c.*352G>A | ENSP00000385868.3:n.*352G>A | |
ENST00000407689.7:c.*352G>A | ENSP00000384183.3:n.*352G>A | |
ENST00000418047.5:c.1760G>A | ENSP00000400319.1:n.1760G>A | |
ENST00000434291.5:c.1795G>A | ENSP00000401535.1:n.1795G>A | |
ENST00000434987.5:c.1781G>A | ENSP00000415854.1:n.1781G>A | |
ENST00000447976.1:c.1830G>A | ENSP00000406516.1:n.1830G>A | |
ENST00000459785.1:n.251G>A | ||
NM_001037666.2:c.*352G>A | NP_001032755.1:n.*352G>A | |
NM_001037666.3:c.*352G>A MANE Select | NP_001032755.1:n.*352G>A |