HGVS | Genome Assembly |
---|---|
NC_000002.12:g.188992247C>T , CM000664.2:g.188992247C>T | GRCh38 |
NC_000002.11:g.189856973C>T , CM000664.1:g.189856973C>T | GRCh37 |
NC_000002.10:g.189565218C>T | NCBI36 |
NG_007404.1:g.22875C>T , LRG_3:g.22875C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000450867.2:c.996+19C>T | ENSP00000415346.2:n.996+19C>T | |
ENST00000304636.9:c.996+19C>T MANE Select | ENSP00000304408.4:n.996+19C>T | |
ENST00000304636.7:c.996+19C>T | ENSP00000304408.3:n.996+19C>T | |
ENST00000317840.9:c.996+19C>T | ENSP00000315243.6:n.996+19C>T | |
ENST00000450867.1:c.94+19C>T | ||
NM_000090.3:c.996+19C>T , LRG_3t1:c.996+19C>T | NP_000081.1:n.996+19C>T | |
NM_000090.4:c.996+19C>T MANE Select | NP_000081.2:n.996+19C>T |