HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91272652G>T , CM000676.2:g.91272652G>T | GRCh38 |
NC_000014.8:g.91738996G>T , CM000676.1:g.91738996G>T | GRCh37 |
NC_000014.7:g.90808749G>T | NCBI36 |
NG_033118.1:g.150193C>A | |
NG_033118.2:g.150193C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.6060C>A MANE Select | ENSP00000374507.6:p.Thr2020= | |
ENST00000331194.8:c.1494C>A | ENSP00000330332.8:p.Thr498= | |
ENST00000389857.10:c.6060C>A | ENSP00000374507.6:p.Thr2020= | |
ENST00000556726.5:c.2288C>A | ||
NM_001080414.3:c.6060C>A | NP_001073883.2:p.Thr2020= | |
XM_011536796.1:c.5952C>A | XP_011535098.1:p.Thr1984= | |
XM_011536796.2:c.5952C>A | XP_011535098.1:p.Thr1984= | |
XM_017021336.1:c.3141C>A | XP_016876825.1:p.Thr1047= | |
NM_001080414.4:c.6060C>A MANE Select | NP_001073883.2:p.Thr2020= |