Linked Data
dbSNP Id:
rs561357979
gnomAD v2:
11-64557057-C-T
gnomAD v3:
11-64789585-C-T
gnomAD v4:
11-64789585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64789585C>T , CM000673.2:g.64789585C>T | GRCh38 |
| NC_000011.9:g.64557057C>T , CM000673.1:g.64557057C>T | GRCh37 |
| NC_000011.8:g.64313633C>T | NCBI36 |
| NG_033040.1:g.18657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294066.7:c.2415G>A MANE Select | ENSP00000294066.2:p.Glu805= | |
| ENST00000294066.6:c.2415G>A | ENSP00000294066.2:p.Glu805= | |
| ENST00000377350.7:c.2391G>A | ENSP00000366567.3:p.Glu797= | |
| ENST00000424945.5:c.727G>A | ||
| ENST00000433890.5:c.2362G>A | ENSP00000413167.1:n.2362G>A | |
| ENST00000435926.5:c.*2215G>A | ENSP00000400594.1:n.*2215G>A | |
| ENST00000470088.5:n.1357G>A | ||
| NM_001307990.1:c.2391G>A | NP_001294919.1:p.Glu797= | |
| NM_004579.3:c.2415G>A | NP_004570.2:p.Glu805= | |
| NM_004579.4:c.2415G>A | NP_004570.2:p.Glu805= | |
| XM_011545202.1:c.2391G>A | XP_011543504.1:p.Glu797= | |
| XM_011545203.1:c.2346G>A | XP_011543505.1:p.Glu782= | |
| XM_011545204.1:c.2283G>A | XP_011543506.1:p.Glu761= | |
| XM_011545204.3:c.2283G>A | XP_011543506.1:p.Glu761= | |
| XM_017018093.2:c.2259G>A | XP_016873582.1:p.Glu753= | |
| XM_017018095.2:c.1815G>A | XP_016873584.1:p.Glu605= | |
| XM_024448629.1:c.2535G>A | XP_024304397.1:p.Glu845= | |
| XM_024448630.1:c.2466G>A | XP_024304398.1:p.Glu822= | |
| XM_024448631.1:c.2403G>A | XP_024304399.1:p.Glu801= | |
| XM_024448633.1:c.2004G>A | XP_024304401.1:p.Glu668= | |
| XR_002957155.1:n.2629G>A | ||
| NM_004579.5:c.2415G>A MANE Select | NP_004570.2:p.Glu805= | |
| NM_001307990.2:c.2391G>A | NP_001294919.1:p.Glu797= |