HGVS | Genome Assembly |
---|---|
NC_000008.11:g.64624496G>T , CM000670.2:g.64624496G>T | GRCh38 |
NC_000008.10:g.65537053G>T , CM000670.1:g.65537053G>T | GRCh37 |
NC_000008.9:g.65699607G>T | NCBI36 |
NG_008338.1:g.179296C>A | |
NG_008338.2:g.179296C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310193.4:c.166C>A MANE Select | ENSP00000310721.3:p.Leu56Ile | |
ENST00000310193.3:c.166C>A | ENSP00000310721.3:p.Leu56Ile | |
NM_004820.3:c.166C>A | NP_004811.1:p.Leu56Ile | |
NM_001324112.1:c.166C>A | NP_001311041.1:p.Leu56Ile | |
NM_004820.4:c.166C>A | NP_004811.1:p.Leu56Ile | |
XM_017014002.1:c.232C>A | XP_016869491.1:p.Leu78Ile | |
NM_004820.5:c.166C>A MANE Select | NP_004811.1:p.Leu56Ile | |
NM_001324112.2:c.166C>A | NP_001311041.1:p.Leu56Ile |