HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216121948G>T , CM000664.2:g.216121948G>T | GRCh38 |
NC_000002.11:g.216986671G>T , CM000664.1:g.216986671G>T | GRCh37 |
NC_000002.10:g.216694916G>T | NCBI36 |
NG_029780.1:g.17652G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392132.7:c.492-114G>T MANE Select | ENSP00000375977.2:n.492-114G>T | |
ENST00000392132.6:c.492-114G>T | ENSP00000375977.2:n.492-114G>T | |
ENST00000392133.7:c.492-114G>T | ENSP00000375978.3:n.492-114G>T | |
ENST00000460284.5:n.1034-114G>T | ||
NM_021141.3:c.492-114G>T | NP_066964.1:n.492-114G>T | |
NM_021141.4:c.492-114G>T MANE Select | NP_066964.1:n.492-114G>T |