HGVS | Genome Assembly |
---|---|
NC_000023.11:g.100598284C>T , CM000685.2:g.100598284C>T | GRCh38 |
NC_000023.10:g.99853281C>T , CM000685.1:g.99853281C>T | GRCh37 |
NC_000023.9:g.99739937C>T | NCBI36 |
NG_013266.1:g.18492C>T | |
NG_013266.2:g.18492C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373031.5:c.577+627C>T MANE Select | ENSP00000362122.4:n.577+627C>T | |
ENST00000373031.4:c.577+627C>T | ENSP00000362122.4:n.577+627C>T | |
NM_022144.2:c.577+627C>T | NP_071427.2:n.577+627C>T | |
XM_005262175.3:c.388+627C>T | XP_005262232.1:n.388+627C>T | |
XM_005262176.1:c.577+627C>T | XP_005262233.1:n.577+627C>T | |
XM_011531008.1:c.388+627C>T | XP_011529310.1:n.388+627C>T | |
XM_011531009.1:c.388+627C>T | XP_011529311.1:n.388+627C>T | |
XM_011531010.1:c.388+627C>T | XP_011529312.1:n.388+627C>T | |
NM_022144.3:c.577+627C>T MANE Select | NP_071427.2:n.577+627C>T |