HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152676062A>G , CM000669.2:g.152676062A>G | GRCh38 |
NC_000007.13:g.152373147A>G , CM000669.1:g.152373147A>G | GRCh37 |
NC_000007.12:g.152004080A>G | NCBI36 |
NG_027988.1:g.5104T>C | |
NG_027988.2:g.5104T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.-69T>C | ENSP00000513758.1:n.-69T>C | |
ENST00000698507.1:n.86T>C | ||
ENST00000359321.2:c.18T>C MANE Select | ENSP00000352271.1:p.His6= | |
ENST00000359321.1:c.18T>C | ENSP00000352271.1:p.His6= | |
NM_005431.1:c.18T>C | NP_005422.1:p.His6= | |
NM_005431.2:c.18T>C MANE Select | NP_005422.1:p.His6= |