HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31139396T>G , CM000668.2:g.31139396T>G | GRCh38 |
NC_000006.11:g.31107173T>G , CM000668.1:g.31107173T>G | GRCh37 |
NC_000006.10:g.31215152T>G | NCBI36 |
NG_021348.1:g.29566T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259881.10:c.168-245T>G MANE Select | ENSP00000259881.9:n.168-245T>G | |
ENST00000259881.9:c.168-245T>G | ENSP00000259881.9:n.168-245T>G | |
ENST00000479581.5:n.62-245T>G | ||
ENST00000481450.2:c.-22-245T>G | ENSP00000447158.1:n.-22-245T>G | |
ENST00000547221.1:c.24-245T>G | ENSP00000449471.1:n.24-245T>G | |
ENST00000552747.1:n.1091T>G | ||
NM_014068.2:c.168-245T>G | NP_054787.2:n.168-245T>G | |
NM_014068.3:c.168-245T>G MANE Select | NP_054787.2:n.168-245T>G |