HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169485626C>T , CM000663.2:g.169485626C>T | GRCh38 |
NC_000001.10:g.169454864C>T , CM000663.1:g.169454864C>T | GRCh37 |
NC_000001.9:g.167721488C>T | NCBI36 |
NG_008255.1:g.5345G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000236137.10:c.141G>A MANE Select | ENSP00000236137.5:p.Arg47= | |
ENST00000646596.1:c.141G>A | ENSP00000494404.1:p.Arg47= | |
ENST00000236137.9:c.141G>A | ENSP00000236137.5:p.Arg47= | |
ENST00000367804.4:c.141G>A | ENSP00000356778.3:p.Arg47= | |
NM_006996.2:c.141G>A | NP_008927.1:p.Arg47= | |
XM_011509076.1:c.12+427G>A | XP_011507378.1:n.12+427G>A | |
XM_011509077.1:c.141G>A | XP_011507379.1:p.Arg47= | |
NM_001319667.1:c.141G>A | NP_001306596.1:p.Arg47= | |
NM_006996.3:c.141G>A MANE Select | NP_008927.1:p.Arg47= |