HGVS | Genome Assembly |
---|---|
NC_000005.10:g.96415913G>A , CM000667.2:g.96415913G>A | GRCh38 |
NC_000005.9:g.95751617G>A , CM000667.1:g.95751617G>A | GRCh37 |
NC_000005.8:g.95777373G>A | NCBI36 |
NG_021161.1:g.22369C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311106.8:c.709+120C>T MANE Select | ENSP00000308024.2:n.709+120C>T | |
ENST00000311106.7:c.709+120C>T | ENSP00000308024.2:n.709+120C>T | |
ENST00000508626.5:c.568+120C>T | ENSP00000421600.1:n.568+120C>T | |
NM_000439.4:c.709+120C>T | NP_000430.3:n.709+120C>T | |
NM_001177875.1:c.568+120C>T | NP_001171346.1:n.568+120C>T | |
NR_130776.1:n.354+36261G>A | ||
NM_000439.5:c.709+120C>T MANE Select | NP_000430.3:n.709+120C>T | |
NM_001177875.2:c.568+120C>T | NP_001171346.1:n.568+120C>T |