HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37966124C>G , CM000670.2:g.37966124C>G | GRCh38 |
NC_000008.10:g.37823642C>G , CM000670.1:g.37823642C>G | GRCh37 |
NC_000008.9:g.37942799C>G | NCBI36 |
NG_011936.1:g.5543G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345060.5:c.346G>C MANE Select | ENSP00000343782.3:p.Val116Leu | |
ENST00000520341.2:n.474G>C | ||
ENST00000345060.4:c.346G>C | ENSP00000343782.3:p.Val116Leu | |
ENST00000614635.1:c.346G>C | ENSP00000480325.1:p.Val116Leu | |
NM_000025.2:c.346G>C | NP_000016.1:p.Val116Leu | |
NM_000025.3:c.346G>C MANE Select | NP_000016.1:p.Val116Leu |