Linked Data
ClinVar Variation Id:
2397653
dbSNP Id:
rs575119407
ExAC:
19:6682235 C / T
gnomAD v2:
19-6682235-C-T
gnomAD v3:
19-6682224-C-T
gnomAD v4:
19-6682224-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6682224C>T , CM000681.2:g.6682224C>T | GRCh38 |
| NC_000019.9:g.6682235C>T , CM000681.1:g.6682235C>T | GRCh37 |
| NC_000019.8:g.6633235C>T | NCBI36 |
| NG_009557.1:g.43428G>A , LRG_27:g.43428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2526G>A | ||
| ENST00000695653.1:c.2087G>A | ENSP00000512084.1:p.Arg696Gln | |
| ENST00000695654.1:c.3203G>A | ENSP00000512085.1:p.Arg1068Gln | |
| ENST00000695689.1:c.149G>A | ENSP00000512101.1:n.149G>A | |
| ENST00000695690.1:n.369G>A | ||
| ENST00000695691.1:n.369G>A | ||
| ENST00000245907.11:c.4178G>A MANE Select | ENSP00000245907.4:p.Arg1393Gln | |
| ENST00000245907.10:c.4178G>A | ENSP00000245907.4:p.Arg1393Gln | |
| ENST00000596548.1:c.299G>A | ENSP00000469744.1:p.Arg100Gln | |
| ENST00000599899.5:n.1137G>A | ||
| ENST00000601008.1:c.242-4266G>A | ENSP00000471384.1:n.242-4266G>A | |
| NM_000064.3:c.4178G>A | NP_000055.2:p.Arg1393Gln | |
| NM_000064.4:c.4178G>A MANE Select | NP_000055.2:p.Arg1393Gln |