HGVS | Genome Assembly |
---|---|
NC_000008.11:g.64604727A>C , CM000670.2:g.64604727A>C | GRCh38 |
NC_000008.10:g.65517284A>C , CM000670.1:g.65517284A>C | GRCh37 |
NC_000008.9:g.65679838A>C | NCBI36 |
NG_008338.1:g.199065T>G | |
NG_008338.2:g.199065T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310193.4:c.1188T>G MANE Select | ENSP00000310721.3:p.Phe396Leu | |
ENST00000310193.3:c.1188T>G | ENSP00000310721.3:p.Phe396Leu | |
ENST00000523954.1:n.462T>G | ||
NM_004820.3:c.1188T>G | NP_004811.1:p.Phe396Leu | |
NM_001324112.1:c.1188T>G | NP_001311041.1:p.Phe396Leu | |
NM_004820.4:c.1188T>G | NP_004811.1:p.Phe396Leu | |
XM_017014002.1:c.1254T>G | XP_016869491.1:p.Phe418Leu | |
NM_004820.5:c.1188T>G MANE Select | NP_004811.1:p.Phe396Leu | |
NM_001324112.2:c.1188T>G | NP_001311041.1:p.Phe396Leu |