HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52029769A>C , CM000666.2:g.52029769A>C | GRCh38 |
NC_000004.11:g.52895935A>C , CM000666.1:g.52895935A>C | GRCh37 |
NC_000004.10:g.52590692A>C | NCBI36 |
NG_008891.1:g.13551T>G , LRG_204:g.13551T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000381431.10:c.338T>G MANE Select | ENSP00000370839.6:p.Val113Gly | |
ENST00000381431.9:c.338T>G | ENSP00000370839.5:p.Val113Gly | |
ENST00000506357.5:c.421T>G | ||
ENST00000514133.1:c.415T>G | ENSP00000425818.1:n.415T>G | |
NM_000232.4:c.338T>G , LRG_204t1:c.338T>G | NP_000223.1:p.Val113Gly | |
XM_006714049.2:c.41T>G | XP_006714112.1:p.Val14Gly | |
XM_011534403.1:c.128T>G | XP_011532705.1:p.Val43Gly | |
XM_011534404.1:c.41T>G | XP_011532706.1:p.Val14Gly | |
NM_000232.5:c.338T>G MANE Select | NP_000223.1:p.Val113Gly |