HGVS | Genome Assembly |
---|---|
NC_000002.12:g.188994189G>T , CM000664.2:g.188994189G>T | GRCh38 |
NC_000002.11:g.189858915G>T , CM000664.1:g.189858915G>T | GRCh37 |
NC_000002.10:g.189567160G>T | NCBI36 |
NG_007404.1:g.24817G>T , LRG_3:g.24817G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.1096-45G>T | ENSP00000415346.2:n.1096-45G>T | |
ENST00000304636.9:c.1195-45G>T MANE Select | ENSP00000304408.4:n.1195-45G>T | |
ENST00000304636.7:c.1195-45G>T | ENSP00000304408.3:n.1195-45G>T | |
ENST00000317840.9:c.1195-45G>T | ENSP00000315243.6:n.1195-45G>T | |
ENST00000450867.1:c.194-45G>T | ||
NM_000090.3:c.1195-45G>T , LRG_3t1:c.1195-45G>T | NP_000081.1:n.1195-45G>T | |
NM_000090.4:c.1195-45G>T MANE Select | NP_000081.2:n.1195-45G>T |