HGVS | Genome Assembly |
---|---|
NC_000013.11:g.93293605A>T , CM000675.2:g.93293605A>T | GRCh38 |
NC_000013.10:g.93945858A>T , CM000675.1:g.93945858A>T | GRCh37 |
NC_000013.9:g.92743859A>T | NCBI36 |
NG_011880.1:g.71781A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377047.9:c.160+65989A>T MANE Select | ENSP00000366246.3:n.160+65989A>T | |
ENST00000377047.8:c.160+65989A>T | ENSP00000366246.3:n.160+65989A>T | |
NM_005708.3:c.160+65989A>T | NP_005699.1:n.160+65989A>T | |
NM_005708.4:c.160+65989A>T | NP_005699.1:n.160+65989A>T | |
XM_017020299.2:c.-51+27648A>T | XP_016875788.1:n.-51+27648A>T | |
NM_005708.5:c.160+65989A>T MANE Select | NP_005699.1:n.160+65989A>T |