HGVS | Genome Assembly |
---|---|
NC_000011.10:g.101034566G>A , CM000673.2:g.101034566G>A | GRCh38 |
NC_000011.9:g.100905297G>A , CM000673.1:g.100905297G>A | GRCh37 |
NC_000011.8:g.100410507G>A | NCBI36 |
NG_016475.1:g.100248C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325455.10:c.*4550C>T MANE Select | ENSP00000325120.5:n.*4550C>T | |
ENST00000325455.9:c.*4550C>T | ENSP00000325120.5:n.*4550C>T | |
NM_000926.4:c.*4550C>T MANE Select | NP_000917.3:n.*4550C>T | |
NM_001202474.3:c.*4550C>T | NP_001189403.1:n.*4550C>T | |
NM_001271161.2:c.*4550C>T | NP_001258090.1:n.*4550C>T | |
NM_001271162.1:c.*4550C>T | NP_001258091.1:n.*4550C>T | |
NR_073141.2:n.7293C>T | ||
NR_073142.2:n.7176C>T | ||
NR_073143.2:n.6908C>T | ||
NM_001271162.2:c.*4550C>T | NP_001258091.1:n.*4550C>T | |
NR_073141.3:n.7307C>T | ||
NR_073142.3:n.7190C>T | ||
NR_073143.3:n.6922C>T |