HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114044272G>A , CM000672.2:g.114044272G>A | GRCh38 |
NC_000010.10:g.115804031G>A , CM000672.1:g.115804031G>A | GRCh37 |
NC_000010.9:g.115794021G>A | NCBI36 |
NG_012187.1:g.5226G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.140G>A MANE Select | ENSP00000358301.2:p.Ser47Asn | |
ENST00000369295.3:c.140G>A | ENSP00000358301.2:p.Ser47Asn | |
NM_000684.2:c.140G>A | NP_000675.1:p.Ser47Asn | |
NM_000684.3:c.140G>A MANE Select | NP_000675.1:p.Ser47Asn |