HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135031366T>A , CM000667.2:g.135031366T>A | GRCh38 |
NC_000005.9:g.134367056T>A , CM000667.1:g.134367056T>A | GRCh37 |
NC_000005.8:g.134394955T>A | NCBI36 |
NG_012114.1:g.7909A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265340.12:c.312A>T MANE Select | ENSP00000265340.6:p.Leu104= | |
ENST00000265340.11:c.312A>T | ENSP00000265340.6:p.Leu104= | |
ENST00000502676.1:c.312A>T | ENSP00000423624.1:p.Leu104= | |
ENST00000503586.1:c.434A>T | ||
ENST00000504936.1:n.645A>T | ||
ENST00000506438.5:c.312A>T | ENSP00000427542.1:p.Leu104= | |
ENST00000507253.5:c.312A>T | ENSP00000422908.1:p.Leu104= | |
NM_002653.4:c.312A>T | NP_002644.4:p.Leu104= | |
NM_002653.5:c.312A>T MANE Select | NP_002644.4:p.Leu104= |