HGVS | Genome Assembly |
---|---|
NC_000002.12:g.142097722G>A , CM000664.2:g.142097722G>A | GRCh38 |
NC_000002.11:g.142855291G>A , CM000664.1:g.142855291G>A | GRCh37 |
NC_000002.10:g.142571761G>A | NCBI36 |
NG_051023.1:g.39742C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389484.8:c.82+32926C>T MANE Select | ENSP00000374135.3:n.82+32926C>T | |
ENST00000389484.7:c.82+32926C>T | ENSP00000374135.3:n.82+32926C>T | |
ENST00000434794.1:c.82+32926C>T | ENSP00000413239.1:n.82+32926C>T | |
NM_018557.2:c.82+32926C>T | NP_061027.2:n.82+32926C>T | |
XM_011511352.1:c.193+32926C>T | XP_011509654.1:n.193+32926C>T | |
XM_017004341.1:c.-309+11138C>T | XP_016859830.1:n.-309+11138C>T | |
XR_001738778.1:n.1816+32926C>T | ||
NM_018557.3:c.82+32926C>T MANE Select | NP_061027.2:n.82+32926C>T |