HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35823908G>T , CM000668.2:g.35823908G>T | GRCh38 |
NC_000006.11:g.35791685G>T , CM000668.1:g.35791685G>T | GRCh37 |
NC_000006.10:g.35899663G>T | NCBI36 |
NG_012184.1:g.23615G>T | |
NG_012184.2:g.23615G>T | |
NG_012184.3:g.31703G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360215.3:c.*943G>T MANE Select | ENSP00000353346.1:n.*943G>T | |
ENST00000496656.2:n.578+4088G>T | ||
ENST00000651132.1:c.*943G>T | ENSP00000498322.1:n.*943G>T | |
ENST00000651676.1:c.*16+4445G>T | ENSP00000498699.1:n.*16+4445G>T | |
ENST00000652718.1:c.508+4445G>T | ENSP00000498866.1:n.508+4445G>T | |
ENST00000360215.2:c.*943G>T | ENSP00000353346.1:n.*943G>T | |
ENST00000496656.1:n.812+4088G>T | ||
NM_182548.3:c.*943G>T | NP_872354.1:n.*943G>T | |
NM_182548.4:c.*943G>T MANE Select | NP_872354.1:n.*943G>T |