HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135031377A>C , CM000667.2:g.135031377A>C | GRCh38 |
NC_000005.9:g.134367067A>C , CM000667.1:g.134367067A>C | GRCh37 |
NC_000005.8:g.134394966A>C | NCBI36 |
NG_012114.1:g.7898T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265340.12:c.301T>G MANE Select | ENSP00000265340.6:p.Leu101Val | |
ENST00000265340.11:c.301T>G | ENSP00000265340.6:p.Leu101Val | |
ENST00000502676.1:c.301T>G | ENSP00000423624.1:p.Leu101Val | |
ENST00000503586.1:c.423T>G | ||
ENST00000504936.1:n.634T>G | ||
ENST00000506438.5:c.301T>G | ENSP00000427542.1:p.Leu101Val | |
ENST00000507253.5:c.301T>G | ENSP00000422908.1:p.Leu101Val | |
NM_002653.4:c.301T>G | NP_002644.4:p.Leu101Val | |
NM_002653.5:c.301T>G MANE Select | NP_002644.4:p.Leu101Val |