HGVS | Genome Assembly |
---|---|
NC_000005.10:g.138946973C>T , CM000667.2:g.138946973C>T | GRCh38 |
NC_000005.9:g.138282662C>T , CM000667.1:g.138282662C>T | GRCh37 |
NC_000005.8:g.138310561C>T | NCBI36 |
NG_008112.1:g.256404G>A | |
NG_008112.2:g.256404G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000394817.7:c.*144G>A MANE Select | ENSP00000378294.2:n.*144G>A | |
ENST00000265195.9:c.*144G>A | ENSP00000265195.5:n.*144G>A | |
ENST00000394817.6:c.*144G>A | ENSP00000378294.2:n.*144G>A | |
NM_001037633.1:c.*144G>A | NP_001032722.1:n.*144G>A | |
NM_022464.4:c.*144G>A | NP_071909.1:n.*144G>A | |
XM_011543570.2:c.*144G>A | XP_011541872.1:n.*144G>A | |
XM_024446164.1:c.*144G>A | XP_024301932.1:n.*144G>A | |
NM_022464.5:c.*144G>A MANE Select | NP_071909.1:n.*144G>A | |
NM_001037633.2:c.*144G>A | NP_001032722.1:n.*144G>A |