HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91272850G>A , CM000676.2:g.91272850G>A | GRCh38 |
NC_000014.8:g.91739194G>A , CM000676.1:g.91739194G>A | GRCh37 |
NC_000014.7:g.90808947G>A | NCBI36 |
NG_033118.1:g.149995C>T | |
NG_033118.2:g.149995C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5862C>T MANE Select | ENSP00000374507.6:p.Thr1954= | |
ENST00000331194.8:c.1296C>T | ENSP00000330332.8:p.Thr432= | |
ENST00000389857.10:c.5862C>T | ENSP00000374507.6:p.Thr1954= | |
ENST00000556726.5:c.2090C>T | ||
NM_001080414.3:c.5862C>T | NP_001073883.2:p.Thr1954= | |
XM_011536796.1:c.5754C>T | XP_011535098.1:p.Thr1918= | |
XM_011536796.2:c.5754C>T | XP_011535098.1:p.Thr1918= | |
XM_017021336.1:c.2943C>T | XP_016876825.1:p.Thr981= | |
NM_001080414.4:c.5862C>T MANE Select | NP_001073883.2:p.Thr1954= |