HGVS | Genome Assembly |
---|---|
NC_000006.12:g.107929466C>T , CM000668.2:g.107929466C>T | GRCh38 |
NC_000006.11:g.108250670C>T , CM000668.1:g.108250670C>T | GRCh37 |
NC_000006.10:g.108357363C>T | NCBI36 |
NG_008270.1:g.33813G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369002.9:c.173G>A MANE Select | ENSP00000357998.4:p.Trp58Ter | |
ENST00000369002.8:c.173G>A | ENSP00000357998.4:p.Trp58Ter | |
ENST00000429168.1:c.5G>A | ENSP00000403144.1:p.Trp2Ter | |
ENST00000446496.1:c.*72G>A | ENSP00000410968.1:n.*72G>A | |
ENST00000484803.5:n.95G>A | ||
NM_007214.4:c.173G>A | NP_009145.1:p.Trp58Ter | |
XM_011535399.1:c.5G>A | XP_011533701.1:p.Trp2Ter | |
XM_017010218.2:c.-922G>A | XP_016865707.1:n.-922G>A | |
NM_007214.5:c.173G>A MANE Select | NP_009145.1:p.Trp58Ter |