HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225573T>G , CM000668.2:g.3225573T>G | GRCh38 |
NC_000006.11:g.3225807T>G , CM000668.1:g.3225807T>G | GRCh37 |
NC_000006.10:g.3170806T>G | NCBI36 |
NG_016715.1:g.7162A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259818.8:c.516A>C MANE Select | ENSP00000259818.6:p.Ser172= | |
ENST00000680070.1:n.1446A>C | ||
ENST00000681707.1:n.1343A>C | ||
ENST00000681757.1:n.821A>C | ||
ENST00000259818.7:c.516A>C | ENSP00000259818.6:p.Ser172= | |
ENST00000473006.1:n.633A>C | ||
NM_178012.4:c.516A>C | NP_821080.1:p.Ser172= | |
XM_011514571.1:c.300A>C | XP_011512873.1:p.Ser100= | |
NM_178012.5:c.516A>C MANE Select | NP_821080.1:p.Ser172= |