HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52029773G>T , CM000666.2:g.52029773G>T | GRCh38 |
NC_000004.11:g.52895939G>T , CM000666.1:g.52895939G>T | GRCh37 |
NC_000004.10:g.52590696G>T | NCBI36 |
NG_008891.1:g.13547C>A , LRG_204:g.13547C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.334C>A MANE Select | ENSP00000370839.6:p.Gln112Lys | |
ENST00000381431.9:c.334C>A | ENSP00000370839.5:p.Gln112Lys | |
ENST00000506357.5:c.417C>A | ||
ENST00000514133.1:c.411C>A | ENSP00000425818.1:n.411C>A | |
NM_000232.4:c.334C>A , LRG_204t1:c.334C>A | NP_000223.1:p.Gln112Lys | |
XM_006714049.2:c.37C>A | XP_006714112.1:p.Gln13Lys | |
XM_011534403.1:c.124C>A | XP_011532705.1:p.Gln42Lys | |
XM_011534404.1:c.37C>A | XP_011532706.1:p.Gln13Lys | |
NM_000232.5:c.334C>A MANE Select | NP_000223.1:p.Gln112Lys |