HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55113391C>A , CM000666.2:g.55113391C>A | GRCh38 |
NC_000004.11:g.55979558C>A , CM000666.1:g.55979558C>A | GRCh37 |
NC_000004.10:g.55674315C>A | NCBI36 |
NG_012004.1:g.17205G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.889G>T MANE Select | ENSP00000263923.4:p.Val297Leu | |
ENST00000647068.1:n.902G>T | ||
ENST00000263923.4:c.889G>T | ENSP00000263923.4:p.Val297Leu | |
ENST00000512566.1:n.889G>T | ||
NM_002253.2:c.889G>T | NP_002244.1:p.Val297Leu | |
NM_002253.3:c.889G>T | NP_002244.1:p.Val297Leu | |
NM_002253.4:c.889G>T MANE Select | NP_002244.1:p.Val297Leu |