Linked Data
dbSNP Id:
rs1967571709
gnomAD v3:
19-6697784-C-A
gnomAD v4:
19-6697784-C-A
MyVariant Identifiers:
chr19:g.6697795C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697784C>A , CM000681.2:g.6697784C>A | GRCh38 |
| NC_000019.9:g.6697795C>A , CM000681.1:g.6697795C>A | GRCh37 |
| NC_000019.8:g.6648795C>A | NCBI36 |
| NG_009557.1:g.27868G>T , LRG_27:g.27868G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.799G>T | ||
| ENST00000695652.1:c.2328G>T | ENSP00000512083.1:p.Val776= | |
| ENST00000695653.1:c.360G>T | ENSP00000512084.1:p.Val120= | |
| ENST00000695654.1:c.1575G>T | ENSP00000512085.1:p.Val525= | |
| ENST00000695655.1:c.1392G>T | ENSP00000512086.1:n.1392G>T | |
| ENST00000695692.1:n.1815G>T | ||
| ENST00000245907.11:c.2451G>T MANE Select | ENSP00000245907.4:p.Val817= | |
| ENST00000245907.10:c.2451G>T | ENSP00000245907.4:p.Val817= | |
| ENST00000602053.1:n.499G>T | ||
| NM_000064.3:c.2451G>T | NP_000055.2:p.Val817= | |
| NM_000064.4:c.2451G>T MANE Select | NP_000055.2:p.Val817= |