HGVS | Genome Assembly |
---|---|
NC_000006.12:g.104958399A>C , CM000668.2:g.104958399A>C | GRCh38 |
NC_000006.11:g.105406274A>C , CM000668.1:g.105406274A>C | GRCh37 |
NC_000006.10:g.105512967A>C | NCBI36 |
NG_032815.1:g.6352A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345080.5:c.198+113A>C MANE Select | ENSP00000344401.4:n.198+113A>C | |
ENST00000635857.1:c.255+113A>C | ENSP00000489735.1:n.255+113A>C | |
ENST00000637759.1:c.222+113A>C | ENSP00000490468.1:n.222+113A>C | |
ENST00000345080.4:c.198+113A>C | ENSP00000344401.4:n.198+113A>C | |
NM_001004317.3:c.198+113A>C | NP_001004317.1:n.198+113A>C | |
XM_006715477.2:c.255+113A>C | XP_006715540.2:n.255+113A>C | |
XM_011535818.1:c.222+113A>C | XP_011534120.1:n.222+113A>C | |
XM_011535818.3:c.222+113A>C | XP_011534120.1:n.222+113A>C | |
NM_001004317.4:c.198+113A>C MANE Select | NP_001004317.1:n.198+113A>C |