HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91272755G>A , CM000676.2:g.91272755G>A | GRCh38 |
NC_000014.8:g.91739099G>A , CM000676.1:g.91739099G>A | GRCh37 |
NC_000014.7:g.90808852G>A | NCBI36 |
NG_033118.1:g.150090C>T | |
NG_033118.2:g.150090C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5957C>T MANE Select | ENSP00000374507.6:p.Pro1986Leu | |
ENST00000331194.8:c.1391C>T | ENSP00000330332.8:p.Pro464Leu | |
ENST00000389857.10:c.5957C>T | ENSP00000374507.6:p.Pro1986Leu | |
ENST00000556726.5:c.2185C>T | ||
NM_001080414.3:c.5957C>T | NP_001073883.2:p.Pro1986Leu | |
XM_011536796.1:c.5849C>T | XP_011535098.1:p.Pro1950Leu | |
XM_011536796.2:c.5849C>T | XP_011535098.1:p.Pro1950Leu | |
XM_017021336.1:c.3038C>T | XP_016876825.1:p.Pro1013Leu | |
NM_001080414.4:c.5957C>T MANE Select | NP_001073883.2:p.Pro1986Leu |