HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159323191G>T , CM000667.2:g.159323191G>T | GRCh38 |
NC_000005.9:g.158750199G>T , CM000667.1:g.158750199G>T | GRCh37 |
NC_000005.8:g.158682777G>T | NCBI36 |
NG_009618.1:g.12283C>A , LRG_71:g.12283C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-2671C>A | ENSP00000512849.1:n.-148-2671C>A | |
ENST00000696751.1:c.227C>A | ENSP00000512850.1:p.Thr76Asn | |
ENST00000231228.3:c.227C>A MANE Select | ENSP00000231228.2:p.Thr76Asn | |
ENST00000231228.2:c.227C>A | ENSP00000231228.2:p.Thr76Asn | |
NM_002187.2:c.227C>A , LRG_71t1:c.227C>A | NP_002178.2:p.Thr76Asn | |
XR_001742945.1:n.148-2343G>T | ||
NM_002187.3:c.227C>A MANE Select | NP_002178.2:p.Thr76Asn |