HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32474933G>T , CM000684.2:g.32474933G>T | GRCh38 |
NC_000022.10:g.32870920G>T , CM000684.1:g.32870920G>T | GRCh37 |
NC_000022.9:g.31200920G>T | NCBI36 |
NG_016001.1:g.5214G>T | |
NG_016001.2:g.5214G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.12:c.-70G>T MANE Select | ENSP00000266087.7:n.-70G>T | |
ENST00000266087.11:c.-70G>T | ENSP00000266087.7:n.-70G>T | |
ENST00000420700.5:c.-70G>T | ENSP00000406155.1:n.-70G>T | |
ENST00000425028.5:c.-70G>T | ENSP00000395823.1:n.-70G>T | |
NM_012179.3:c.-70G>T | NP_036311.3:n.-70G>T | |
XM_011530106.1:c.-243G>T | XP_011528408.1:n.-243G>T | |
XM_024452207.1:c.-260G>T | XP_024307975.1:n.-260G>T | |
NM_012179.4:c.-70G>T MANE Select | NP_036311.3:n.-70G>T |