HGVS | Genome Assembly |
---|---|
NC_000013.11:g.93286376C>A , CM000675.2:g.93286376C>A | GRCh38 |
NC_000013.10:g.93938629C>A , CM000675.1:g.93938629C>A | GRCh37 |
NC_000013.9:g.92736630C>A | NCBI36 |
NG_011880.1:g.64552C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377047.9:c.160+58760C>A MANE Select | ENSP00000366246.3:n.160+58760C>A | |
ENST00000377047.8:c.160+58760C>A | ENSP00000366246.3:n.160+58760C>A | |
NM_005708.3:c.160+58760C>A | NP_005699.1:n.160+58760C>A | |
NM_005708.4:c.160+58760C>A | NP_005699.1:n.160+58760C>A | |
XM_017020299.2:c.-51+20419C>A | XP_016875788.1:n.-51+20419C>A | |
NM_005708.5:c.160+58760C>A MANE Select | NP_005699.1:n.160+58760C>A |