HGVS | Genome Assembly |
---|---|
NC_000001.11:g.2405832C>T , CM000663.2:g.2405832C>T | GRCh38 |
NC_000001.10:g.2337271C>T , CM000663.1:g.2337271C>T | GRCh37 |
NC_000001.9:g.2327131C>T | NCBI36 |
NG_008342.1:g.11740G>A | |
NG_016128.1:g.19058C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288774.8:c.975G>A | ENSP00000288774.3:p.Ala325= | |
ENST00000447513.7:c.915G>A MANE Select | ENSP00000407922.2:p.Ala305= | |
ENST00000650293.1:c.869G>A | ||
ENST00000288774.7:c.975G>A | ENSP00000288774.3:p.Ala325= | |
ENST00000447513.6:c.915G>A | ENSP00000407922.2:p.Ala305= | |
ENST00000507596.5:c.913-4G>A | ENSP00000424291.1:n.913-4G>A | |
NM_002617.3:c.915G>A | NP_002608.1:p.Ala305= | |
NM_153818.1:c.975G>A | NP_722540.1:p.Ala325= | |
XM_011541573.1:c.972G>A | XP_011539875.1:p.Ala324= | |
XM_011541574.1:c.540G>A | XP_011539876.1:p.Ala180= | |
XM_011541575.1:c.540G>A | XP_011539877.1:p.Ala180= | |
XR_946666.1:n.1031G>A | ||
XR_946666.2:n.980G>A | ||
NM_001374425.1:c.972G>A | NP_001361354.1:p.Ala324= | |
NM_001374426.1:c.540G>A | NP_001361355.1:p.Ala180= | |
NM_001374427.1:c.483G>A | NP_001361356.1:p.Ala161= | |
NM_002617.4:c.915G>A MANE Select | NP_002608.1:p.Ala305= | |
NM_153818.2:c.975G>A | NP_722540.1:p.Ala325= | |
NR_164636.1:n.1030G>A |