HGVS | Genome Assembly |
---|---|
NC_000008.11:g.63072944A>T , CM000670.2:g.63072944A>T | GRCh38 |
NC_000008.10:g.63985503A>T , CM000670.1:g.63985503A>T | GRCh37 |
NC_000008.9:g.64148057A>T | NCBI36 |
NG_016123.1:g.18110T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260116.5:c.349T>A MANE Select | ENSP00000260116.4:p.Tyr117Asn | |
ENST00000260116.4:c.349T>A | ENSP00000260116.4:p.Tyr117Asn | |
ENST00000521138.1:n.232+12874T>A | ||
NM_000370.3:c.349T>A MANE Select | NP_000361.1:p.Tyr117Asn | |
XM_006716468.2:c.205-8628T>A | XP_006716531.1:n.205-8628T>A | |
XM_006716468.4:c.205-8628T>A | XP_006716531.1:n.205-8628T>A |