HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31139389C>T , CM000668.2:g.31139389C>T | GRCh38 |
NC_000006.11:g.31107166C>T , CM000668.1:g.31107166C>T | GRCh37 |
NC_000006.10:g.31215145C>T | NCBI36 |
NG_021348.1:g.29559C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259881.10:c.168-252C>T MANE Select | ENSP00000259881.9:n.168-252C>T | |
ENST00000259881.9:c.168-252C>T | ENSP00000259881.9:n.168-252C>T | |
ENST00000479581.5:n.62-252C>T | ||
ENST00000481450.2:c.-22-252C>T | ENSP00000447158.1:n.-22-252C>T | |
ENST00000547221.1:c.24-252C>T | ENSP00000449471.1:n.24-252C>T | |
ENST00000552747.1:n.1084C>T | ||
NM_014068.2:c.168-252C>T | NP_054787.2:n.168-252C>T | |
NM_014068.3:c.168-252C>T MANE Select | NP_054787.2:n.168-252C>T |