Linked Data
ClinVar Variation Id:
449690
dbSNP Id:
rs145817990
ExAC:
19:1399802 T / G
gnomAD v2:
19-1399802-T-G
gnomAD v3:
19-1399803-T-G
gnomAD v4:
19-1399803-T-G
ERepo:
CA9043739/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399803T>G , CM000681.2:g.1399803T>G | GRCh38 |
| NC_000019.9:g.1399802T>G , CM000681.1:g.1399802T>G | GRCh37 |
| NC_000019.8:g.1350802T>G | NCBI36 |
| NG_009785.1:g.6751A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.317A>C MANE Select | ENSP00000252288.1:p.Gln106Pro | |
| ENST00000447102.8:c.317A>C | ENSP00000403536.2:p.Gln106Pro | |
| ENST00000640762.1:c.248A>C | ENSP00000492031.1:p.Gln83Pro | |
| ENST00000252288.6:c.317A>C | ENSP00000252288.1:p.Gln106Pro | |
| ENST00000447102.7:c.317A>C | ENSP00000403536.2:p.Gln106Pro | |
| ENST00000591788.2:c.2A>C | ENSP00000466341.2:p.Gln1Pro | |
| NM_000156.5:c.317A>C | NP_000147.1:p.Gln106Pro | |
| NM_138924.2:c.317A>C | NP_620279.1:p.Gln106Pro | |
| NM_000156.6:c.317A>C MANE Select | NP_000147.1:p.Gln106Pro | |
| NM_138924.3:c.317A>C | NP_620279.1:p.Gln106Pro |