HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128305009C>A , CM000667.2:g.128305009C>A | GRCh38 |
NC_000005.9:g.127640701C>A , CM000667.1:g.127640701C>A | GRCh37 |
NC_000005.8:g.127668600C>A | NCBI36 |
NG_008750.1:g.238035G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2532G>T | ||
ENST00000703785.1:n.2451G>T | ||
ENST00000262464.9:c.5748G>T MANE Select | ENSP00000262464.4:p.Gln1916His | |
ENST00000262464.8:c.5748G>T | ENSP00000262464.4:p.Gln1916His | |
ENST00000508053.5:c.5748G>T | ENSP00000424571.1:p.Gln1916His | |
ENST00000619499.4:c.5745G>T | ENSP00000482132.1:p.Gln1915His | |
NM_001999.3:c.5748G>T | NP_001990.2:p.Gln1916His | |
XM_017009228.2:c.5595G>T | XP_016864717.1:p.Gln1865His | |
NM_001999.4:c.5748G>T MANE Select | NP_001990.2:p.Gln1916His |