Linked Data
ClinVar Variation Id:
2880080
ClinVar RCV Id:
RCV003713115
dbSNP Id:
rs764067174
ExAC:
19:6697548 T / G
gnomAD v2:
19-6697548-T-G
gnomAD v4:
19-6697537-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697537T>G , CM000681.2:g.6697537T>G | GRCh38 |
| NC_000019.9:g.6697548T>G , CM000681.1:g.6697548T>G | GRCh37 |
| NC_000019.8:g.6648548T>G | NCBI36 |
| NG_009557.1:g.28115A>C , LRG_27:g.28115A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.951A>C | ||
| ENST00000695652.1:c.2480A>C | ENSP00000512083.1:p.His827Pro | |
| ENST00000695653.1:c.512A>C | ENSP00000512084.1:p.His171Pro | |
| ENST00000695654.1:c.1727A>C | ENSP00000512085.1:p.His576Pro | |
| ENST00000695655.1:c.1544A>C | ENSP00000512086.1:n.1544A>C | |
| ENST00000695692.1:n.1967A>C | ||
| ENST00000245907.11:c.2603A>C MANE Select | ENSP00000245907.4:p.His868Pro | |
| ENST00000245907.10:c.2603A>C | ENSP00000245907.4:p.His868Pro | |
| ENST00000594005.1:n.179A>C | ||
| NM_000064.3:c.2603A>C | NP_000055.2:p.His868Pro | |
| NM_000064.4:c.2603A>C MANE Select | NP_000055.2:p.His868Pro |