HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45804302C>G , CM000681.2:g.45804302C>G | GRCh38 |
NC_000019.9:g.46307560C>G , CM000681.1:g.46307560C>G | GRCh37 |
NC_000019.8:g.50999400C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221538.8:c.1603G>C MANE Select | ENSP00000221538.2:p.Val535Leu | |
ENST00000221538.7:c.1603G>C | ENSP00000221538.2:p.Val535Leu | |
ENST00000597055.1:c.1603G>C | ENSP00000472630.1:p.Val535Leu | |
ENST00000600188.5:c.811G>C | ENSP00000471559.1:p.Val271Leu | |
NM_030785.3:c.1603G>C | NP_110412.1:p.Val535Leu | |
XM_011527351.1:c.1603G>C | XP_011525653.1:p.Val535Leu | |
XM_011527351.2:c.1603G>C | XP_011525653.1:p.Val535Leu | |
NM_030785.4:c.1603G>C MANE Select | NP_110412.1:p.Val535Leu |