Linked Data
ClinVar Variation Id:
18204
ClinVar RCV Id:
RCV003556053
dbSNP Id:
rs79738788
ExAC:
4:74285292 A / G
gnomAD v2:
4-74285292-A-G
gnomAD v3:
4-73419575-A-G
gnomAD v4:
4-73419575-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73419575A>G , CM000666.2:g.73419575A>G | GRCh38 |
| NC_000004.11:g.74285292A>G , CM000666.1:g.74285292A>G | GRCh37 |
| NC_000004.10:g.74504156A>G | NCBI36 |
| NG_009291.1:g.20321A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1721A>G MANE Select | ENSP00000295897.4:p.Asp574Gly | |
| ENST00000295897.8:c.1721A>G | ENSP00000295897.4:p.Asp574Gly | |
| ENST00000401494.7:c.1376A>G | ENSP00000384695.3:p.Asp459Gly | |
| ENST00000415165.6:c.1145A>G | ENSP00000401820.2:p.Asp382Gly | |
| ENST00000476441.6:c.*1000A>G | ENSP00000423727.1:n.*1000A>G | |
| ENST00000495173.1:n.29A>G | ||
| ENST00000503124.5:c.1271A>G | ENSP00000421027.1:p.Asp424Gly | |
| ENST00000505649.5:n.1268A>G | ||
| ENST00000508932.5:n.175+120A>G | ||
| ENST00000509063.5:c.1721A>G | ENSP00000422784.1:p.Asp574Gly | |
| ENST00000511370.1:c.1254A>G | ||
| ENST00000621085.4:c.1082A>G | ENSP00000483421.1:p.Asp361Gly | |
| ENST00000621628.4:c.1082A>G | ENSP00000480485.1:p.Asp361Gly | |
| NM_000477.5:c.1721A>G | NP_000468.1:p.Asp574Gly | |
| NM_000477.6:c.1721A>G | NP_000468.1:p.Asp574Gly | |
| NM_000477.7:c.1721A>G MANE Select | NP_000468.1:p.Asp574Gly |