HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47283438G>C , CM000679.2:g.47283438G>C | GRCh38 |
NC_000017.10:g.45360804G>C , CM000679.1:g.45360804G>C | GRCh37 |
NC_000017.9:g.42715803G>C | NCBI36 |
NG_008332.2:g.34597G>C , LRG_481:g.34597G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.250G>C | ENSP00000513002.1:p.Val84Leu | |
ENST00000559488.7:c.250G>C MANE Select | ENSP00000452786.2:p.Val84Leu | |
ENST00000559488.5:c.250G>C | ENSP00000452786.1:p.Val84Leu | |
ENST00000560629.1:c.215G>C | ||
ENST00000571680.1:c.250G>C | ENSP00000461626.1:p.Val84Leu | |
NM_000212.2:c.250G>C , LRG_481t1:c.250G>C | NP_000203.2:p.Val84Leu | |
NM_000212.3:c.250G>C MANE Select | NP_000203.2:p.Val84Leu |