Linked Data
dbSNP Id:
rs773094530
ExAC:
4:74280773 A / G
gnomAD v2:
4-74280773-A-G
gnomAD v3:
4-73415056-A-G
gnomAD v4:
4-73415056-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415056A>G , CM000666.2:g.73415056A>G | GRCh38 |
| NC_000004.11:g.74280773A>G , CM000666.1:g.74280773A>G | GRCh37 |
| NC_000004.10:g.74499637A>G | NCBI36 |
| NG_009291.1:g.15802A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1080A>G MANE Select | ENSP00000295897.4:p.Arg360= | |
| ENST00000295897.8:c.1080A>G | ENSP00000295897.4:p.Arg360= | |
| ENST00000401494.7:c.735A>G | ENSP00000384695.3:p.Arg245= | |
| ENST00000415165.6:c.504A>G | ENSP00000401820.2:p.Arg168= | |
| ENST00000476441.6:c.*359A>G | ENSP00000423727.1:n.*359A>G | |
| ENST00000484992.1:n.400A>G | ||
| ENST00000503124.5:c.630A>G | ENSP00000421027.1:p.Arg210= | |
| ENST00000504043.1:n.83A>G | ||
| ENST00000505649.5:n.766A>G | ||
| ENST00000509063.5:c.1080A>G | ENSP00000422784.1:p.Arg360= | |
| ENST00000511370.1:c.613A>G | ||
| ENST00000621085.4:c.491-50A>G | ENSP00000483421.1:n.491-50A>G | |
| ENST00000621628.4:c.487-46A>G | ENSP00000480485.1:n.487-46A>G | |
| NM_000477.5:c.1080A>G | NP_000468.1:p.Arg360= | |
| NM_000477.6:c.1080A>G | NP_000468.1:p.Arg360= | |
| NM_000477.7:c.1080A>G MANE Select | NP_000468.1:p.Arg360= |