HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45546268C>T , CM000681.2:g.45546268C>T | GRCh38 |
NC_000019.9:g.46049526C>T , CM000681.1:g.46049526C>T | GRCh37 |
NC_000019.8:g.50741366C>T | NCBI36 |
NG_013332.1:g.43597G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323060.4:c.143-16812G>A | ENSP00000319817.3:n.143-16812G>A | |
ENST00000323060.3:c.143-16812G>A | ENSP00000319817.3:n.143-16812G>A | |
NM_001017989.2:c.143-16812G>A | NP_001017989.2:n.143-16812G>A | |
XM_011527348.1:c.-17-16812G>A | XP_011525650.1:n.-17-16812G>A | |
NM_001017989.3:c.143-16812G>A | NP_001017989.2:n.143-16812G>A |