HGVS | Genome Assembly |
---|---|
NC_000011.10:g.101035002A>T , CM000673.2:g.101035002A>T | GRCh38 |
NC_000011.9:g.100905733A>T , CM000673.1:g.100905733A>T | GRCh37 |
NC_000011.8:g.100410943A>T | NCBI36 |
NG_016475.1:g.99812T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325455.10:c.*4114T>A MANE Select | ENSP00000325120.5:n.*4114T>A | |
ENST00000325455.9:c.*4114T>A | ENSP00000325120.5:n.*4114T>A | |
NM_000926.4:c.*4114T>A MANE Select | NP_000917.3:n.*4114T>A | |
NM_001202474.3:c.*4114T>A | NP_001189403.1:n.*4114T>A | |
NM_001271161.2:c.*4114T>A | NP_001258090.1:n.*4114T>A | |
NM_001271162.1:c.*4114T>A | NP_001258091.1:n.*4114T>A | |
NR_073141.2:n.6857T>A | ||
NR_073142.2:n.6740T>A | ||
NR_073143.2:n.6472T>A | ||
NM_001271162.2:c.*4114T>A | NP_001258091.1:n.*4114T>A | |
NR_073141.3:n.6871T>A | ||
NR_073142.3:n.6754T>A | ||
NR_073143.3:n.6486T>A |