HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117351G>T , CM000669.2:g.19117351G>T | GRCh38 |
NC_000007.13:g.19156974G>T , CM000669.1:g.19156974G>T | GRCh37 |
NC_000007.12:g.19123499G>T | NCBI36 |
NG_008114.1:g.5322C>A | |
NG_008114.2:g.5322C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.-30C>A MANE Select | ENSP00000242261.5:n.-30C>A | |
ENST00000242261.5:c.-30C>A | ENSP00000242261.5:n.-30C>A | |
NM_000474.3:c.-30C>A | NP_000465.1:n.-30C>A | |
XM_011515496.1:c.-30C>A | XP_011513798.1:n.-30C>A | |
NR_149001.1:n.322C>A | ||
NM_000474.4:c.-30C>A MANE Select | NP_000465.1:n.-30C>A | |
NR_149001.2:n.286C>A |