HGVS | Genome Assembly |
---|---|
NC_000004.12:g.6303015C>T , CM000666.2:g.6303015C>T | GRCh38 |
NC_000004.11:g.6304742C>T , CM000666.1:g.6304742C>T | GRCh37 |
NC_000004.10:g.6355643C>T | NCBI36 |
NG_011700.1:g.38166C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682275.1:c.*547C>T | ENSP00000507852.1:n.*547C>T | |
ENST00000683395.1:c.3197C>T | ||
ENST00000684087.1:c.*547C>T | ENSP00000506978.1:n.*547C>T | |
ENST00000673991.1:c.*547C>T | ENSP00000501033.1:n.*547C>T | |
ENST00000226760.5:c.*547C>T MANE Select | ENSP00000226760.1:n.*547C>T | |
ENST00000507765.1:n.3405C>T | ||
NM_001145853.1:c.*547C>T | NP_001139325.1:n.*547C>T | |
NM_006005.3:c.*547C>T MANE Select | NP_005996.2:n.*547C>T | |
XM_017008586.1:c.*547C>T | XP_016864075.1:n.*547C>T | |
XR_001741566.2:n.1930G>A |