HGVS | Genome Assembly |
---|---|
NC_000009.12:g.78304685C>A , CM000671.2:g.78304685C>A | GRCh38 |
NC_000009.11:g.80919601C>A , CM000671.1:g.80919601C>A | GRCh37 |
NC_000009.10:g.80109421C>A | NCBI36 |
NG_012165.1:g.12543C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376588.4:c.192-50C>A MANE Select | ENSP00000365773.3:n.192-50C>A | |
ENST00000347159.6:c.192-50C>A | ENSP00000317606.2:n.192-50C>A | |
ENST00000376588.3:c.192-50C>A | ENSP00000365773.3:n.192-50C>A | |
NM_021154.4:c.192-50C>A | NP_066977.1:n.192-50C>A | |
NM_058179.3:c.192-50C>A | NP_478059.1:n.192-50C>A | |
NM_058179.4:c.192-50C>A MANE Select | NP_478059.1:n.192-50C>A | |
NM_021154.5:c.192-50C>A | NP_066977.1:n.192-50C>A |