HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94762712C>A , CM000672.2:g.94762712C>A | GRCh38 |
NC_000010.10:g.96522469C>A , CM000672.1:g.96522469C>A | GRCh37 |
NC_000010.9:g.96512459C>A | NCBI36 |
NG_008384.2:g.5007C>A | |
NG_008384.3:g.5032C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.7C>A MANE Select | ENSP00000360372.3:p.Pro3Thr | |
ENST00000371321.7:c.7C>A | ENSP00000360372.3:p.Pro3Thr | |
ENST00000464755.1:c.932-12346C>A | ENSP00000483243.1:n.932-12346C>A | |
ENST00000480405.2:c.7C>A | ENSP00000483847.1:p.Pro3Thr | |
NM_000769.2:c.7C>A | NP_000760.1:p.Pro3Thr | |
NM_000769.4:c.7C>A MANE Select | NP_000760.1:p.Pro3Thr |