HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99949692C>G , CM000666.2:g.99949692C>G | GRCh38 |
NC_000004.11:g.100870849C>G , CM000666.1:g.100870849C>G | GRCh37 |
NC_000004.10:g.101089872C>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000296417.6:c.52G>C MANE Select | ENSP00000296417.5:p.Val18Leu | |
ENST00000651623.1:c.52G>C | ENSP00000498935.1:p.Val18Leu | |
ENST00000296417.5:c.52G>C | ENSP00000296417.5:p.Val18Leu | |
ENST00000511203.1:n.608G>C | ||
ENST00000511319.5:n.577G>C | ||
ENST00000511348.1:n.237G>C | ||
ENST00000527366.1:n.136G>C | ||
ENST00000529158.5:n.101G>C | ||
NM_002106.3:c.52G>C | NP_002097.1:p.Val18Leu | |
NM_002106.4:c.52G>C MANE Select | NP_002097.1:p.Val18Leu |