HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31125780A>G , CM000668.2:g.31125780A>G | GRCh38 |
NC_000006.11:g.31093557A>G , CM000668.1:g.31093557A>G | GRCh37 |
NC_000006.10:g.31201536A>G | NCBI36 |
NG_021348.1:g.15950A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259881.10:c.-124A>G MANE Select | ENSP00000259881.9:n.-124A>G | |
ENST00000259881.9:c.-124A>G | ENSP00000259881.9:n.-124A>G | |
ENST00000479581.5:n.61+10889A>G | ||
ENST00000548049.1:n.221A>G | ||
ENST00000550838.1:n.100A>G | ||
ENST00000552747.1:n.53+10889A>G | ||
NM_014068.2:c.-124A>G | NP_054787.2:n.-124A>G | |
NM_014068.3:c.-124A>G MANE Select | NP_054787.2:n.-124A>G |