HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160139924A>C , CM000663.2:g.160139924A>C | GRCh38 |
NC_000001.10:g.160109714A>C , CM000663.1:g.160109714A>C | GRCh37 |
NC_000001.9:g.158376338A>C | NCBI36 |
NG_008014.1:g.29167A>C , LRG_6:g.29167A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361216.8:c.2974A>C MANE Select | ENSP00000354490.3:p.Ser992Arg | |
ENST00000361216.7:c.2974A>C | ENSP00000354490.3:p.Ser992Arg | |
ENST00000392233.7:c.2943-2A>C | ENSP00000376066.3:n.2943-2A>C | |
ENST00000447527.1:c.2055A>C | ||
ENST00000463989.1:n.310A>C | ||
NM_000702.3:c.2974A>C | NP_000693.1:p.Ser992Arg | |
NM_000702.4:c.2974A>C MANE Select | NP_000693.1:p.Ser992Arg |