HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52028027C>G , CM000666.2:g.52028027C>G | GRCh38 |
NC_000004.11:g.52894193C>G , CM000666.1:g.52894193C>G | GRCh37 |
NC_000004.10:g.52588950C>G | NCBI36 |
NG_008891.1:g.15293G>C , LRG_204:g.15293G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000381431.10:c.694G>C MANE Select | ENSP00000370839.6:p.Val232Leu | |
ENST00000381431.9:c.694G>C | ENSP00000370839.5:p.Val232Leu | |
NM_000232.4:c.694G>C , LRG_204t1:c.694G>C | NP_000223.1:p.Val232Leu | |
XM_006714049.2:c.397G>C | XP_006714112.1:p.Val133Leu | |
XM_011534403.1:c.484G>C | XP_011532705.1:p.Val162Leu | |
XM_011534404.1:c.397G>C | XP_011532706.1:p.Val133Leu | |
NM_000232.5:c.694G>C MANE Select | NP_000223.1:p.Val232Leu |