HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47004096G>T , CM000681.2:g.47004096G>T | GRCh38 |
NC_000019.9:g.47507353G>T , CM000681.1:g.47507353G>T | GRCh37 |
NC_000019.8:g.52199193G>T | NCBI36 |
NG_047014.1:g.90530G>T | |
NG_047014.2:g.148100G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7908G>T | ENSP00000385720.2:n.7908G>T | |
ENST00000672722.1:c.*3408G>T MANE Select | ENSP00000500409.1:n.*3408G>T | |
ENST00000404338.7:c.7908G>T | ENSP00000385720.2:n.7908G>T | |
ENST00000614079.1:c.7485G>T | ENSP00000483730.1:n.7485G>T | |
NM_004491.4:c.7908G>T | NP_004482.4:n.7908G>T | |
NM_004491.5:c.*3408G>T MANE Select | NP_004482.4:n.*3408G>T |