HGVS | Genome Assembly |
---|---|
NC_000007.14:g.150992473T>C , CM000669.2:g.150992473T>C | GRCh38 |
NC_000007.13:g.150689561T>C , CM000669.1:g.150689561T>C | GRCh37 |
NC_000007.12:g.150320494T>C | NCBI36 |
NG_011992.1:g.6415T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297494.8:c.-52+1173T>C MANE Select | ENSP00000297494.3:n.-52+1173T>C | |
ENST00000297494.7:c.-52+1173T>C | ENSP00000297494.3:n.-52+1173T>C | |
ENST00000461406.5:c.-149+1173T>C | ENSP00000417143.1:n.-149+1173T>C | |
NM_000603.4:c.-52+1173T>C | NP_000594.2:n.-52+1173T>C | |
NM_000603.5:c.-52+1173T>C MANE Select | NP_000594.2:n.-52+1173T>C |