HGVS | Genome Assembly |
---|---|
NC_000001.11:g.157700500C>A , CM000663.2:g.157700500C>A | GRCh38 |
NC_000001.10:g.157670290C>A , CM000663.1:g.157670290C>A | GRCh37 |
NC_000001.9:g.155936914C>A | NCBI36 |
NG_023241.1:g.5358G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368184.8:c.-11G>T MANE Select | ENSP00000357167.3:n.-11G>T | |
ENST00000368184.7:c.-11G>T | ENSP00000357167.3:n.-11G>T | |
ENST00000368186.9:c.-11G>T | ENSP00000357169.5:n.-11G>T | |
ENST00000477837.5:c.-11G>T | ENSP00000433430.1:n.-11G>T | |
ENST00000480682.5:n.155G>T | ||
ENST00000485028.5:c.-11G>T | ENSP00000434331.1:n.-11G>T | |
ENST00000492769.5:c.-11G>T | ENSP00000435487.1:n.-11G>T | |
ENST00000494724.5:n.155G>T | ||
ENST00000496769.1:c.-11G>T | ENSP00000473680.1:n.-11G>T | |
NM_052939.3:c.-11G>T | NP_443171.2:n.-11G>T | |
XM_006711145.1:c.-11G>T | XP_006711208.1:n.-11G>T | |
XM_011509138.1:c.-11G>T | XP_011507440.1:n.-11G>T | |
XR_241065.1:n.188G>T | ||
NM_001320333.1:c.-11G>T | NP_001307262.1:n.-11G>T | |
NR_135214.1:n.297G>T | ||
NR_135215.1:n.297G>T | ||
NR_135216.1:n.297G>T | ||
NR_135217.1:n.297G>T | ||
NM_052939.4:c.-11G>T MANE Select | NP_443171.2:n.-11G>T | |
NM_001320333.2:c.-11G>T | NP_001307262.1:n.-11G>T | |
NR_135214.2:n.194G>T | ||
NR_135215.2:n.194G>T | ||
NR_135216.2:n.194G>T | ||
NR_135217.2:n.194G>T |