HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044137G>T , CM000674.2:g.5044137G>T | GRCh38 |
NC_000012.11:g.5153303G>T , CM000674.1:g.5153303G>T | GRCh37 |
NC_000012.10:g.5023564G>T | NCBI36 |
NG_012198.1:g.5219G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252321.5:c.-11G>T MANE Select | ENSP00000252321.3:n.-11G>T | |
ENST00000252321.4:c.-11G>T | ENSP00000252321.3:n.-11G>T | |
NM_002234.3:c.-11G>T | NP_002225.2:n.-11G>T | |
NM_002234.4:c.-11G>T MANE Select | NP_002225.2:n.-11G>T |