HGVS | Genome Assembly |
---|---|
NC_000006.12:g.151468174G>T , CM000668.2:g.151468174G>T | GRCh38 |
NC_000006.11:g.151789309G>T , CM000668.1:g.151789309G>T | GRCh37 |
NC_000006.10:g.151831002G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367294.4:c.559-169G>T MANE Select | ENSP00000356263.3:n.559-169G>T | |
ENST00000367294.3:c.559-169G>T | ENSP00000356263.3:n.559-169G>T | |
ENST00000494826.1:c.*282-169G>T | ENSP00000435882.1:n.*282-169G>T | |
ENST00000545879.5:c.202-169G>T | ENSP00000444121.1:n.202-169G>T | |
NM_001286562.1:c.202-169G>T | NP_001273491.1:n.202-169G>T | |
NM_024573.2:c.559-169G>T | NP_078849.1:n.559-169G>T | |
NM_024573.3:c.559-169G>T MANE Select | NP_078849.1:n.559-169G>T | |
NM_001286562.2:c.202-169G>T | NP_001273491.1:n.202-169G>T |