HGVS | Genome Assembly |
---|---|
NC_000001.11:g.109263898G>T , CM000663.2:g.109263898G>T | GRCh38 |
NC_000001.10:g.109806520G>T , CM000663.1:g.109806520G>T | GRCh37 |
NC_000001.9:g.109608043G>T | NCBI36 |
NG_052669.1:g.19194G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271332.4:c.5001+121G>T MANE Select | ENSP00000271332.3:n.5001+121G>T | |
ENST00000271332.3:c.5001+121G>T | ENSP00000271332.3:n.5001+121G>T | |
NM_001408.2:c.5001+121G>T | NP_001399.1:n.5001+121G>T | |
XM_005270580.3:c.5001+121G>T | XP_005270637.1:n.5001+121G>T | |
NM_001408.3:c.5001+121G>T MANE Select | NP_001399.1:n.5001+121G>T |