HGVS | Genome Assembly |
---|---|
NC_000001.11:g.149927556G>A , CM000663.2:g.149927556G>A | GRCh38 |
NC_000001.10:g.149899448G>A , CM000663.1:g.149899448G>A | GRCh37 |
NC_000001.9:g.148166072G>A | NCBI36 |
NG_032777.1:g.5697C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271628.9:c.34+170C>T MANE Select | ENSP00000271628.8:n.34+170C>T | |
ENST00000271628.8:c.34+170C>T | ENSP00000271628.8:n.34+170C>T | |
ENST00000457312.1:c.-220C>T | ENSP00000391114.1:n.-220C>T | |
NM_005850.4:c.34+170C>T | NP_005841.1:n.34+170C>T | |
NM_005850.5:c.34+170C>T MANE Select | NP_005841.1:n.34+170C>T |