HGVS | Genome Assembly |
---|---|
NC_000017.11:g.82727684A>C , CM000679.2:g.82727684A>C | GRCh38 |
NC_000017.10:g.80685560A>C , CM000679.1:g.80685560A>C | GRCh37 |
NC_000017.9:g.78278849A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000269373.11:c.*513A>C MANE Select | ENSP00000269373.6:n.*513A>C | |
ENST00000269373.10:c.*513A>C | ENSP00000269373.6:n.*513A>C | |
ENST00000571594.1:c.53+517A>C | ENSP00000459751.1:n.53+517A>C | |
NM_024619.3:c.*513A>C | NP_078895.2:n.*513A>C | |
NR_046408.1:n.1621A>C | ||
XM_024450948.1:c.*513A>C | XP_024306716.1:n.*513A>C | |
NM_024619.4:c.*513A>C MANE Select | NP_078895.2:n.*513A>C | |
NR_046408.2:n.1621A>C |