HGVS | Genome Assembly |
---|---|
NC_000002.12:g.157421764C>T , CM000664.2:g.157421764C>T | GRCh38 |
NC_000002.11:g.158278276C>T , CM000664.1:g.158278276C>T | GRCh37 |
NC_000002.10:g.157986522C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264192.8:c.547-3175G>A MANE Select | ENSP00000264192.3:n.547-3175G>A | |
ENST00000264192.7:c.547-3175G>A | ENSP00000264192.3:n.547-3175G>A | |
ENST00000418920.5:c.229-3175G>A | ENSP00000394308.1:n.229-3175G>A | |
ENST00000457793.6:c.*442-3175G>A | ENSP00000407205.2:n.*442-3175G>A | |
NM_004288.4:c.547-3175G>A | NP_004279.3:n.547-3175G>A | |
XM_017005386.2:c.229-3175G>A | XP_016860875.1:n.229-3175G>A | |
NM_004288.5:c.547-3175G>A MANE Select | NP_004279.3:n.547-3175G>A |