HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147904387T>C , CM000669.2:g.147904387T>C | GRCh38 |
NC_000007.13:g.147601479T>C , CM000669.1:g.147601479T>C | GRCh37 |
NC_000007.12:g.147232412T>C | NCBI36 |
NG_007092.2:g.1793027T>C | |
NG_007092.3:g.1793387T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.2255+666T>C MANE Select | ENSP00000354778.3:n.2255+666T>C | |
ENST00000636870.1:n.2117+666T>C | ||
ENST00000637825.1:n.1738+666T>C | ||
ENST00000361727.7:c.2255+666T>C | ENSP00000354778.3:n.2255+666T>C | |
ENST00000455301.2:n.190+666T>C | ||
ENST00000627772.2:n.428+666T>C | ||
NM_014141.5:c.2255+666T>C | NP_054860.1:n.2255+666T>C | |
XM_006715919.1:c.743+666T>C | XP_006715982.1:n.743+666T>C | |
NM_014141.6:c.2255+666T>C MANE Select | NP_054860.1:n.2255+666T>C |