Linked Data
ClinVar Variation Id:
2069494
dbSNP Id:
rs377762182
ExAC:
19:6677938 G / A
gnomAD v2:
19-6677938-G-A
gnomAD v3:
19-6677927-G-A
gnomAD v4:
19-6677927-G-A
MyVariant Identifiers:
chr19:g.6677938G>A (hg19)
chr19:g.6677938_6677944delinsAAGGTCC (hg19)
chr19:g.6677927G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6677927G>A , CM000681.2:g.6677927G>A | GRCh38 |
| NC_000019.9:g.6677938G>A , CM000681.1:g.6677938G>A | GRCh37 |
| NC_000019.8:g.6628938G>A | NCBI36 |
| NG_009557.1:g.47725C>T , LRG_27:g.47725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.3295C>T | ||
| ENST00000695653.1:c.2856C>T | ENSP00000512084.1:p.Leu952= | |
| ENST00000695654.1:c.3972C>T | ENSP00000512085.1:p.Leu1324= | |
| ENST00000695689.1:c.918C>T | ENSP00000512101.1:n.918C>T | |
| ENST00000695690.1:n.2012C>T | ||
| ENST00000695691.1:n.1808C>T | ||
| ENST00000245907.11:c.4947C>T MANE Select | ENSP00000245907.4:p.Leu1649= | |
| ENST00000245907.10:c.4947C>T | ENSP00000245907.4:p.Leu1649= | |
| ENST00000599668.1:n.567C>T | ||
| ENST00000599899.5:n.1906C>T | ||
| ENST00000601008.1:c.273C>T | ENSP00000471384.1:p.Leu91= | |
| ENST00000601475.1:n.276C>T | ||
| ENST00000602229.1:c.522C>T | ||
| NM_000064.3:c.4947C>T | NP_000055.2:p.Leu1649= | |
| NM_000064.4:c.4947C>T MANE Select | NP_000055.2:p.Leu1649= |