HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40285356C>A , CM000681.2:g.40285356C>A | GRCh38 |
NC_000019.9:g.40791263C>A , CM000681.1:g.40791263C>A | GRCh37 |
NC_000019.8:g.45483103C>A | NCBI36 |
NG_012038.2:g.5003G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000391844.8:c.-306G>T | ENSP00000375719.4:n.-306G>T | |
ENST00000392038.6:c.-260G>T | ENSP00000375892.2:n.-260G>T | |
ENST00000424901.5:c.-260G>T | ENSP00000399532.2:n.-260G>T | |
ENST00000578123.5:c.-85+92G>T | ENSP00000462022.1:n.-85+92G>T | |
NM_001243027.2:c.-409G>T | NP_001229956.1:n.-409G>T | |
NM_001243028.2:c.-316G>T | NP_001229957.1:n.-316G>T | |
NM_001626.5:c.-260G>T | NP_001617.1:n.-260G>T | |
XM_011526620.1:c.-85+92G>T | XP_011524922.1:n.-85+92G>T |