HGVS | Genome Assembly |
---|---|
NC_000016.10:g.10539072A>C , CM000678.2:g.10539072A>C | GRCh38 |
NC_000016.9:g.10632929A>C , CM000678.1:g.10632929A>C | GRCh37 |
NC_000016.8:g.10540430A>C | NCBI36 |
NG_042058.1:g.46645T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359543.8:c.170-998T>G MANE Select | ENSP00000352540.3:n.170-998T>G | |
ENST00000359543.7:c.170-998T>G | ENSP00000352540.3:n.170-998T>G | |
ENST00000536829.1:c.170-998T>G | ENSP00000445712.1:n.170-998T>G | |
NM_001424.4:c.170-998T>G | NP_001415.1:n.170-998T>G | |
NM_001424.5:c.170-998T>G | NP_001415.1:n.170-998T>G | |
XM_006720864.2:c.170-998T>G | XP_006720927.1:n.170-998T>G | |
XM_006720864.3:c.170-998T>G | XP_006720927.1:n.170-998T>G | |
NM_001424.6:c.170-998T>G MANE Select | NP_001415.1:n.170-998T>G |