HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132159T>C , CM000669.2:g.147132159T>C | GRCh38 |
NC_000007.13:g.146829251T>C , CM000669.1:g.146829251T>C | GRCh37 |
NC_000007.12:g.146460184T>C | NCBI36 |
NG_007092.2:g.1020799T>C | |
NG_007092.3:g.1021159T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1084-86T>C MANE Select | ENSP00000354778.3:n.1084-86T>C | |
ENST00000636561.1:n.987-86T>C | ||
ENST00000636870.1:n.946-86T>C | ||
ENST00000637150.1:n.1013-86T>C | ||
ENST00000637694.1:n.987-86T>C | ||
ENST00000637825.1:n.567-86T>C | ||
ENST00000638117.1:n.987-86T>C | ||
ENST00000361727.7:c.1084-86T>C | ENSP00000354778.3:n.1084-86T>C | |
NM_014141.5:c.1084-86T>C | NP_054860.1:n.1084-86T>C | |
XM_017011950.2:c.1084-86T>C | XP_016867439.1:n.1084-86T>C | |
NM_014141.6:c.1084-86T>C MANE Select | NP_054860.1:n.1084-86T>C |