HGVS | Genome Assembly |
---|---|
NC_000002.12:g.74145267C>T , CM000664.2:g.74145267C>T | GRCh38 |
NC_000002.11:g.74372394C>T , CM000664.1:g.74372394C>T | GRCh37 |
NC_000002.10:g.74225902C>T | NCBI36 |
NG_031910.1:g.7646G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327428.10:c.91G>A MANE Select | ENSP00000331369.5:p.Glu31Lys | |
ENST00000295326.4:c.91G>A | ENSP00000295326.4:p.Glu31Lys | |
ENST00000327428.9:c.91G>A | ENSP00000331369.5:p.Glu31Lys | |
ENST00000469676.1:n.1114G>A | ||
ENST00000477685.5:n.242G>A | ||
ENST00000484655.1:n.2646G>A | ||
NM_001035505.1:c.91G>A | NP_001030582.1:p.Glu31Lys | |
NM_212552.2:c.91G>A | NP_997717.2:p.Glu31Lys | |
NM_212552.3:c.91G>A MANE Select | NP_997717.2:p.Glu31Lys | |
NM_001035505.2:c.91G>A | NP_001030582.1:p.Glu31Lys |