HGVS | Genome Assembly |
---|---|
NC_000022.11:g.39244781C>T , CM000684.2:g.39244781C>T | GRCh38 |
NC_000022.10:g.39640786C>T , CM000684.1:g.39640786C>T | GRCh37 |
NC_000022.9:g.37970732C>T | NCBI36 |
NG_012111.1:g.5172G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331163.11:c.-818G>A MANE Select | ENSP00000330382.6:n.-818G>A | |
NM_002608.2:c.-818G>A | NP_002599.1:n.-818G>A | |
NM_002608.3:c.-818G>A | NP_002599.1:n.-818G>A | |
NM_002608.4:c.-818G>A MANE Select | NP_002599.1:n.-818G>A |