HGVS | Genome Assembly |
---|---|
NC_000016.10:g.17134520A>C , CM000678.2:g.17134520A>C | GRCh38 |
NC_000016.9:g.17228377A>C , CM000678.1:g.17228377A>C | GRCh37 |
NC_000016.8:g.17135878A>C | NCBI36 |
NG_015843.1:g.341362T>G | |
NG_015843.2:g.341362T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261381.7:c.1980T>G MANE Select | ENSP00000261381.6:p.Leu660= | |
ENST00000261381.6:c.1980T>G | ENSP00000261381.6:p.Leu660= | |
NM_022166.3:c.1980T>G | NP_071449.1:p.Leu660= | |
XM_011522574.1:c.1980T>G | XP_011520876.1:p.Leu660= | |
XR_933140.1:n.52A>C | ||
XR_933141.1:n.45A>C | ||
XR_933143.1:n.52A>C | ||
NR_135179.1:n.17A>C | ||
XM_017023539.2:c.1980T>G | XP_016879028.1:p.Leu660= | |
XM_017023540.2:c.1980T>G | XP_016879029.1:p.Leu660= | |
NM_022166.4:c.1980T>G MANE Select | NP_071449.1:p.Leu660= |