HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31354145G>A , CM000668.2:g.31354145G>A | GRCh38 |
NC_000006.11:g.31321922G>A , CM000668.1:g.31321922G>A | GRCh37 |
NC_000006.10:g.31429901G>A | NCBI36 |
NG_023187.1:g.8068C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000474381.2:n.3292C>T | ||
ENST00000481849.6:n.3252C>T | ||
ENST00000497377.6:n.3159C>T | ||
ENST00000696558.1:c.1314C>T | ENSP00000512716.1:n.1314C>T | |
ENST00000696559.1:c.*156C>T | ENSP00000512717.1:n.*156C>T | |
ENST00000696560.1:c.*156C>T | ENSP00000512718.1:n.*156C>T | |
ENST00000696561.1:c.*156C>T | ENSP00000512719.1:n.*156C>T | |
ENST00000696562.1:c.*156C>T | ENSP00000512720.1:n.*156C>T | |
ENST00000412585.7:c.*156C>T MANE Select | ENSP00000399168.2:n.*156C>T | |
ENST00000412585.6:c.*156C>T | ENSP00000399168.2:n.*156C>T | |
ENST00000481849.5:n.480C>T | ||
ENST00000497377.5:n.644C>T | ||
NM_005514.6:c.*156C>T | NP_005505.2:n.*156C>T | |
XM_011514556.1:c.*156C>T | XP_011512858.1:n.*156C>T | |
XM_011514557.1:c.*156C>T | XP_011512859.1:n.*156C>T | |
XR_926175.1:n.1684C>T | ||
NM_005514.7:c.*156C>T | NP_005505.2:n.*156C>T | |
NM_005514.8:c.*156C>T MANE Select | NP_005505.2:n.*156C>T |