HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52029768T>A , CM000666.2:g.52029768T>A | GRCh38 |
NC_000004.11:g.52895934T>A , CM000666.1:g.52895934T>A | GRCh37 |
NC_000004.10:g.52590691T>A | NCBI36 |
NG_008891.1:g.13552A>T , LRG_204:g.13552A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000381431.10:c.339A>T MANE Select | ENSP00000370839.6:p.Val113= | |
ENST00000381431.9:c.339A>T | ENSP00000370839.5:p.Val113= | |
ENST00000506357.5:c.422A>T | ||
ENST00000514133.1:c.416A>T | ENSP00000425818.1:n.416A>T | |
NM_000232.4:c.339A>T , LRG_204t1:c.339A>T | NP_000223.1:p.Val113= | |
XM_006714049.2:c.42A>T | XP_006714112.1:p.Val14= | |
XM_011534403.1:c.129A>T | XP_011532705.1:p.Val43= | |
XM_011534404.1:c.42A>T | XP_011532706.1:p.Val14= | |
NM_000232.5:c.339A>T MANE Select | NP_000223.1:p.Val113= |