Linked Data
ClinVar Variation Id:
2919353
ClinVar RCV Id:
RCV003747664
dbSNP Id:
rs536047178
ExAC:
19:1399205 A / G
gnomAD v2:
19-1399205-A-G
gnomAD v3:
19-1399206-A-G
gnomAD v4:
19-1399206-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399206A>G , CM000681.2:g.1399206A>G | GRCh38 |
| NC_000019.9:g.1399205A>G , CM000681.1:g.1399205A>G | GRCh37 |
| NC_000019.8:g.1350205A>G | NCBI36 |
| NG_009785.1:g.7348T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.392-11T>C MANE Select | ENSP00000252288.1:n.392-11T>C | |
| ENST00000447102.8:c.392-11T>C | ENSP00000403536.2:n.392-11T>C | |
| ENST00000591788.3:c.75-11T>C | ||
| ENST00000640164.1:n.225-11T>C | ||
| ENST00000640762.1:c.323-11T>C | ENSP00000492031.1:n.323-11T>C | |
| ENST00000252288.6:c.392-11T>C | ENSP00000252288.1:n.392-11T>C | |
| ENST00000447102.7:c.392-11T>C | ENSP00000403536.2:n.392-11T>C | |
| ENST00000591788.2:c.77-11T>C | ENSP00000466341.2:n.77-11T>C | |
| NM_000156.5:c.392-11T>C | NP_000147.1:n.392-11T>C | |
| NM_138924.2:c.392-11T>C | NP_620279.1:n.392-11T>C | |
| NM_000156.6:c.392-11T>C MANE Select | NP_000147.1:n.392-11T>C | |
| NM_138924.3:c.392-11T>C | NP_620279.1:n.392-11T>C |