HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52028025T>C , CM000666.2:g.52028025T>C | GRCh38 |
NC_000004.11:g.52894191T>C , CM000666.1:g.52894191T>C | GRCh37 |
NC_000004.10:g.52588948T>C | NCBI36 |
NG_008891.1:g.15295A>G , LRG_204:g.15295A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000381431.10:c.696A>G MANE Select | ENSP00000370839.6:p.Val232= | |
ENST00000381431.9:c.696A>G | ENSP00000370839.5:p.Val232= | |
NM_000232.4:c.696A>G , LRG_204t1:c.696A>G | NP_000223.1:p.Val232= | |
XM_006714049.2:c.399A>G | XP_006714112.1:p.Val133= | |
XM_011534403.1:c.486A>G | XP_011532705.1:p.Val162= | |
XM_011534404.1:c.399A>G | XP_011532706.1:p.Val133= | |
NM_000232.5:c.696A>G MANE Select | NP_000223.1:p.Val232= |