HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112228676G>T , CM000673.2:g.112228676G>T | GRCh38 |
NC_000011.9:g.112099399G>T , CM000673.1:g.112099399G>T | GRCh37 |
NC_000011.8:g.111604609G>T | NCBI36 |
NG_008743.1:g.7312G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000280362.8:c.163+3G>T MANE Select | ENSP00000280362.3:n.163+3G>T | |
ENST00000280362.7:c.163+3G>T | ENSP00000280362.3:n.163+3G>T | |
ENST00000524931.1:c.-42+3G>T | ENSP00000434688.1:n.-42+3G>T | |
ENST00000525645.1:n.241G>T | ||
ENST00000525803.1:c.163+3G>T | ENSP00000431750.1:n.163+3G>T | |
ENST00000528679.5:c.163+3G>T | ENSP00000435895.1:n.163+3G>T | |
ENST00000531673.5:c.163+3G>T | ENSP00000433469.1:n.163+3G>T | |
NM_000317.2:c.163+3G>T | NP_000308.1:n.163+3G>T | |
NM_000317.3:c.163+3G>T MANE Select | NP_000308.1:n.163+3G>T |