HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75764620C>G , CM000676.2:g.75764620C>G | GRCh38 |
NC_000014.8:g.76230963C>G , CM000676.1:g.76230963C>G | GRCh37 |
NC_000014.7:g.75300716C>G | NCBI36 |
NG_016974.1:g.108413C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298832.14:c.1556C>G MANE Select | ENSP00000298832.9:p.Thr519Ser | |
ENST00000298832.13:c.1556C>G | ENSP00000298832.9:p.Thr519Ser | |
ENST00000554510.5:c.83C>G | ENSP00000451946.1:p.Thr28Ser | |
ENST00000555422.5:n.862C>G | ||
ENST00000556893.5:c.209C>G | ENSP00000452524.1:p.Thr70Ser | |
ENST00000556976.1:n.290C>G | ||
ENST00000557636.5:c.1598C>G | ENSP00000450713.1:p.Thr533Ser | |
NM_015072.4:c.1556C>G | NP_055887.3:p.Thr519Ser | |
NM_015072.5:c.1556C>G MANE Select | NP_055887.3:p.Thr519Ser |