HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775437T>A , CM000672.2:g.94775437T>A | GRCh38 |
NC_000010.10:g.96535194T>A , CM000672.1:g.96535194T>A | GRCh37 |
NC_000010.9:g.96525184T>A | NCBI36 |
NG_008384.2:g.17732T>A | |
NG_008384.3:g.17757T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.379T>A MANE Select | ENSP00000360372.3:p.Ser127Thr | |
ENST00000645461.1:n.1432T>A | ||
ENST00000371321.7:c.379T>A | ENSP00000360372.3:p.Ser127Thr | |
ENST00000464755.1:c.1142T>A | ENSP00000483243.1:n.1142T>A | |
ENST00000480405.2:c.379T>A | ENSP00000483847.1:p.Ser127Thr | |
NM_000769.2:c.379T>A | NP_000760.1:p.Ser127Thr | |
NM_000769.4:c.379T>A MANE Select | NP_000760.1:p.Ser127Thr |