HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40472293C>A , CM000677.2:g.40472293C>A | GRCh38 |
NC_000015.9:g.40764492C>A , CM000677.1:g.40764492C>A | GRCh37 |
NC_000015.8:g.38551784C>A | NCBI36 |
NG_017074.1:g.6333C>A , LRG_600:g.6333C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306243.7:c.1080C>A MANE Select | ENSP00000307297.6:p.Ser360= | |
ENST00000306243.6:c.1080C>A | ENSP00000307297.5:p.Ser360= | |
ENST00000559991.1:c.1005C>A | ENSP00000453882.1:p.Ser335= | |
NM_130468.3:c.1080C>A , LRG_600t1:c.1080C>A | NP_569735.1:p.Ser360= | |
NM_130468.4:c.1080C>A MANE Select | NP_569735.1:p.Ser360= |