HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160139925G>A , CM000663.2:g.160139925G>A | GRCh38 |
NC_000001.10:g.160109715G>A , CM000663.1:g.160109715G>A | GRCh37 |
NC_000001.9:g.158376339G>A | NCBI36 |
NG_008014.1:g.29168G>A , LRG_6:g.29168G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361216.8:c.2975G>A MANE Select | ENSP00000354490.3:p.Ser992Asn | |
ENST00000361216.7:c.2975G>A | ENSP00000354490.3:p.Ser992Asn | |
ENST00000392233.7:c.2943-1G>A | ENSP00000376066.3:n.2943-1G>A | |
ENST00000447527.1:c.2056G>A | ||
ENST00000463989.1:n.311G>A | ||
NM_000702.3:c.2975G>A | NP_000693.1:p.Ser992Asn | |
NM_000702.4:c.2975G>A MANE Select | NP_000693.1:p.Ser992Asn |