HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154965990C>G , CM000685.2:g.154965990C>G | GRCh38 |
NC_000023.10:g.154194265C>G , CM000685.1:g.154194265C>G | GRCh37 |
NC_000023.9:g.153847459C>G | NCBI36 |
NG_011403.1:g.61734G>C | |
NG_011403.2:g.61734G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1423G>C MANE Select | ENSP00000353393.4:p.Glu475Gln | |
ENST00000647125.1:c.*1299G>C | ENSP00000496062.1:n.*1299G>C | |
ENST00000360256.8:c.1423G>C | ENSP00000353393.4:p.Glu475Gln | |
ENST00000483822.2:n.243G>C | ||
NM_000132.3:c.1423G>C | NP_000123.1:p.Glu475Gln | |
XM_011531126.1:c.1318G>C | XP_011529428.1:p.Glu440Gln | |
NM_000132.4:c.1423G>C MANE Select | NP_000123.1:p.Glu475Gln |