HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225567C>A , CM000668.2:g.3225567C>A | GRCh38 |
NC_000006.11:g.3225801C>A , CM000668.1:g.3225801C>A | GRCh37 |
NC_000006.10:g.3170800C>A | NCBI36 |
NG_016715.1:g.7168G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259818.8:c.522G>T MANE Select | ENSP00000259818.6:p.Lys174Asn | |
ENST00000680070.1:n.1452G>T | ||
ENST00000681707.1:n.1349G>T | ||
ENST00000681757.1:n.827G>T | ||
ENST00000259818.7:c.522G>T | ENSP00000259818.6:p.Lys174Asn | |
ENST00000473006.1:n.639G>T | ||
NM_178012.4:c.522G>T | NP_821080.1:p.Lys174Asn | |
XM_011514571.1:c.306G>T | XP_011512873.1:p.Lys102Asn | |
NM_178012.5:c.522G>T MANE Select | NP_821080.1:p.Lys174Asn |