HGVS | Genome Assembly |
---|---|
NC_000015.10:g.64162950G>A , CM000677.2:g.64162950G>A | GRCh38 |
NC_000015.9:g.64455149G>A , CM000677.1:g.64455149G>A | GRCh37 |
NC_000015.8:g.62242202G>A | NCBI36 |
NG_012979.1:g.5206C>T , LRG_10:g.5206C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300026.4:c.37C>T MANE Select | ENSP00000300026.4:p.Leu13Phe | |
ENST00000561048.2:n.70C>T | ||
ENST00000680158.1:c.37C>T | ENSP00000504873.1:p.Leu13Phe | |
ENST00000681397.1:c.37C>T | ENSP00000506584.1:p.Leu13Phe | |
ENST00000681658.1:c.30+7C>T | ENSP00000505431.1:n.30+7C>T | |
ENST00000300026.3:c.37C>T | ENSP00000300026.3:p.Leu13Phe | |
ENST00000558492.1:n.57C>T | ||
ENST00000561048.1:n.72C>T | ||
NM_000942.4:c.37C>T , LRG_10t1:c.37C>T | NP_000933.1:p.Leu13Phe | |
NM_000942.5:c.37C>T MANE Select | NP_000933.1:p.Leu13Phe |