HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118932762C>A , CM000670.2:g.118932762C>A | GRCh38 |
NC_000008.10:g.119945001C>A , CM000670.1:g.119945001C>A | GRCh37 |
NC_000008.9:g.120014182C>A | NCBI36 |
NG_012202.1:g.24383G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297350.9:c.400+169G>T MANE Select | ENSP00000297350.4:n.400+169G>T | |
ENST00000297350.8:c.400+169G>T | ENSP00000297350.4:n.400+169G>T | |
ENST00000517352.1:c.400+169G>T | ENSP00000427924.1:n.400+169G>T | |
NM_002546.3:c.400+169G>T | NP_002537.3:n.400+169G>T | |
NM_002546.4:c.400+169G>T MANE Select | NP_002537.3:n.400+169G>T |