HGVS | Genome Assembly |
---|---|
NC_000010.11:g.43126769T>C , CM000672.2:g.43126769T>C | GRCh38 |
NC_000010.10:g.43622217T>C , CM000672.1:g.43622217T>C | GRCh37 |
NC_000010.9:g.42942223T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000615310.5:c.*15T>C | ENSP00000480088.2:n.*15T>C | |
ENST00000683007.1:n.2808T>C | ||
ENST00000340058.6:c.*15T>C | ENSP00000344798.4:n.*15T>C | |
ENST00000355710.8:c.3187+47T>C MANE Select | ENSP00000347942.3:n.3187+47T>C | |
ENST00000671844.1:c.*1828T>C | ENSP00000500541.1:n.*1828T>C | |
ENST00000672389.1:c.*1828T>C | ENSP00000500252.1:n.*1828T>C | |
ENST00000340058.5:c.*15T>C | ENSP00000344798.4:n.*15T>C | |
ENST00000355710.7:c.3187+47T>C | ENSP00000347942.3:n.3187+47T>C | |
ENST00000615310.4:c.*536+47T>C | ENSP00000480088.1:n.*536+47T>C | |
NM_020975.4:c.3187+47T>C , LRG_518t1:c.3187+47T>C | NP_066124.1:n.3187+47T>C | |
XM_011540027.1:c.3187+47T>C | XP_011538329.1:n.3187+47T>C | |
NM_001355216.1:c.*15T>C | NP_001342145.1:n.*15T>C | |
NM_020630.5:c.*15T>C | NP_065681.1:n.*15T>C | |
NM_020975.5:c.3187+47T>C | NP_066124.1:n.3187+47T>C | |
NM_020975.6:c.3187+47T>C MANE Select | NP_066124.1:n.3187+47T>C | |
NM_020630.6:c.*15T>C | NP_065681.1:n.*15T>C |