HGVS | Genome Assembly |
---|---|
NC_000001.11:g.149927548C>A , CM000663.2:g.149927548C>A | GRCh38 |
NC_000001.10:g.149899440C>A , CM000663.1:g.149899440C>A | GRCh37 |
NC_000001.9:g.148166064C>A | NCBI36 |
NG_032777.1:g.5705G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271628.9:c.34+178G>T MANE Select | ENSP00000271628.8:n.34+178G>T | |
ENST00000271628.8:c.34+178G>T | ENSP00000271628.8:n.34+178G>T | |
ENST00000457312.1:c.-212G>T | ENSP00000391114.1:n.-212G>T | |
NM_005850.4:c.34+178G>T | NP_005841.1:n.34+178G>T | |
NM_005850.5:c.34+178G>T MANE Select | NP_005841.1:n.34+178G>T |