HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152676044G>A , CM000669.2:g.152676044G>A | GRCh38 |
NC_000007.13:g.152373129G>A , CM000669.1:g.152373129G>A | GRCh37 |
NC_000007.12:g.152004062G>A | NCBI36 |
NG_027988.1:g.5122C>T | |
NG_027988.2:g.5122C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.-51C>T | ENSP00000513758.1:n.-51C>T | |
ENST00000698507.1:n.104C>T | ||
ENST00000359321.2:c.36C>T MANE Select | ENSP00000352271.1:p.Thr12= | |
ENST00000359321.1:c.36C>T | ENSP00000352271.1:p.Thr12= | |
NM_005431.1:c.36C>T | NP_005422.1:p.Thr12= | |
NM_005431.2:c.36C>T MANE Select | NP_005422.1:p.Thr12= |