HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86575833T>G , CM000670.2:g.86575833T>G | GRCh38 |
NC_000008.10:g.87588061T>G , CM000670.1:g.87588061T>G | GRCh37 |
NC_000008.9:g.87657177T>G | NCBI36 |
NG_016980.1:g.172843A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.2401A>C MANE Select | ENSP00000316605.5:p.Ile801Leu | |
ENST00000681546.1:n.2221A>C | ||
ENST00000681746.1:c.*812A>C | ENSP00000505959.1:n.*812A>C | |
ENST00000320005.5:c.2401A>C | ENSP00000316605.5:p.Ile801Leu | |
ENST00000517327.5:c.276+2856A>C | ENSP00000428329.1:n.276+2856A>C | |
NM_019098.4:c.2401A>C | NP_061971.3:p.Ile801Leu | |
XM_011517138.1:c.1987A>C | XP_011515440.1:p.Ile663Leu | |
XM_011517138.2:c.1987A>C | XP_011515440.1:p.Ile663Leu | |
NM_019098.5:c.2401A>C MANE Select | NP_061971.3:p.Ile801Leu |