HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225748T>G , CM000668.2:g.3225748T>G | GRCh38 |
NC_000006.11:g.3225982T>G , CM000668.1:g.3225982T>G | GRCh37 |
NC_000006.10:g.3170981T>G | NCBI36 |
NG_016715.1:g.6987A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259818.8:c.341A>C MANE Select | ENSP00000259818.6:p.Asp114Ala | |
ENST00000680070.1:n.1271A>C | ||
ENST00000681707.1:n.1168A>C | ||
ENST00000681757.1:n.646A>C | ||
ENST00000259818.7:c.341A>C | ENSP00000259818.6:p.Asp114Ala | |
ENST00000473006.1:n.458A>C | ||
NM_178012.4:c.341A>C | NP_821080.1:p.Asp114Ala | |
XM_011514571.1:c.125A>C | XP_011512873.1:p.Asp42Ala | |
NM_178012.5:c.341A>C MANE Select | NP_821080.1:p.Asp114Ala |