HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91273355G= , CM000676.2:g.91273355G= | GRCh38 |
NC_000014.8:g.91739699G= , CM000676.1:g.91739699G= | GRCh37 |
NC_000014.7:g.90809452G= | NCBI36 |
NG_033118.1:g.149490C= | |
NG_033118.2:g.149490C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5357C= MANE Select | ENSP00000374507.6:p.Pro1786= | |
ENST00000331194.8:c.924+5C= | ENSP00000330332.8:n.924+5C= | |
ENST00000389857.10:c.5357C= | ENSP00000374507.6:p.Pro1786= | |
ENST00000556726.5:c.1585C= | ||
NM_001080414.3:c.5357C= | NP_001073883.2:p.Pro1786= | |
XM_011536796.1:c.5249C= | XP_011535098.1:p.Pro1750= | |
XM_011536796.2:c.5249C= | XP_011535098.1:p.Pro1750= | |
XM_017021336.1:c.2438C= | XP_016876825.1:p.Pro813= | |
NM_001080414.4:c.5357C= MANE Select | NP_001073883.2:p.Pro1786= |