Linked Data
dbSNP Id:
rs748588849
ExAC:
11:64557066 G / A
gnomAD v2:
11-64557066-G-A
gnomAD v3:
11-64789594-G-A
gnomAD v4:
11-64789594-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64789594G>A , CM000673.2:g.64789594G>A | GRCh38 |
| NC_000011.9:g.64557066G>A , CM000673.1:g.64557066G>A | GRCh37 |
| NC_000011.8:g.64313642G>A | NCBI36 |
| NG_033040.1:g.18648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294066.7:c.2406C>T MANE Select | ENSP00000294066.2:p.Asp802= | |
| ENST00000294066.6:c.2406C>T | ENSP00000294066.2:p.Asp802= | |
| ENST00000377350.7:c.2382C>T | ENSP00000366567.3:p.Asp794= | |
| ENST00000424945.5:c.718C>T | ||
| ENST00000433890.5:c.2353C>T | ENSP00000413167.1:n.2353C>T | |
| ENST00000435926.5:c.*2206C>T | ENSP00000400594.1:n.*2206C>T | |
| ENST00000470088.5:n.1348C>T | ||
| NM_001307990.1:c.2382C>T | NP_001294919.1:p.Asp794= | |
| NM_004579.3:c.2406C>T | NP_004570.2:p.Asp802= | |
| NM_004579.4:c.2406C>T | NP_004570.2:p.Asp802= | |
| XM_011545202.1:c.2382C>T | XP_011543504.1:p.Asp794= | |
| XM_011545203.1:c.2337C>T | XP_011543505.1:p.Asp779= | |
| XM_011545204.1:c.2274C>T | XP_011543506.1:p.Asp758= | |
| XM_011545204.3:c.2274C>T | XP_011543506.1:p.Asp758= | |
| XM_017018093.2:c.2250C>T | XP_016873582.1:p.Asp750= | |
| XM_017018095.2:c.1806C>T | XP_016873584.1:p.Asp602= | |
| XM_024448629.1:c.2526C>T | XP_024304397.1:p.Asp842= | |
| XM_024448630.1:c.2457C>T | XP_024304398.1:p.Asp819= | |
| XM_024448631.1:c.2394C>T | XP_024304399.1:p.Asp798= | |
| XM_024448633.1:c.1995C>T | XP_024304401.1:p.Asp665= | |
| XR_002957155.1:n.2620C>T | ||
| NM_004579.5:c.2406C>T MANE Select | NP_004570.2:p.Asp802= | |
| NM_001307990.2:c.2382C>T | NP_001294919.1:p.Asp794= |