HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951552T>A , CM000670.2:g.19951552T>A | GRCh38 |
NC_000008.10:g.19809063T>A , CM000670.1:g.19809063T>A | GRCh37 |
NC_000008.9:g.19853343T>A | NCBI36 |
NG_008855.1:g.17482T>A | |
NG_008855.2:g.54836T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.250-217T>A MANE Select | ENSP00000497642.1:n.250-217T>A | |
ENST00000311322.8:c.250-217T>A | ENSP00000309757.6:n.250-217T>A | |
ENST00000520959.5:c.22-217T>A | ENSP00000428496.1:n.22-217T>A | |
ENST00000521994.1:n.435-145T>A | ||
ENST00000522701.5:c.250-217T>A | ENSP00000428557.1:n.250-217T>A | |
ENST00000524029.5:c.250-217T>A | ENSP00000428237.1:n.250-217T>A | |
NM_000237.2:c.250-217T>A | NP_000228.1:n.250-217T>A | |
NM_000237.3:c.250-217T>A MANE Select | NP_000228.1:n.250-217T>A |