Linked Data
ClinVar Variation Id:
2880796
ClinVar RCV Id:
RCV003715548
gnomAD v4:
19-6713235-C-T
MyVariant Identifiers:
chr19:g.6713246C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713235C>T , CM000681.2:g.6713235C>T | GRCh38 |
| NC_000019.9:g.6713246C>T , CM000681.1:g.6713246C>T | GRCh37 |
| NC_000019.8:g.6664246C>T | NCBI36 |
| NG_009557.1:g.12417G>A , LRG_27:g.12417G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.834G>A | ENSP00000512083.1:p.Leu278= | |
| ENST00000695654.1:c.81G>A | ENSP00000512085.1:p.Leu27= | |
| ENST00000695692.1:n.281G>A | ||
| ENST00000245907.11:c.957G>A MANE Select | ENSP00000245907.4:p.Leu319= | |
| ENST00000245907.10:c.957G>A | ENSP00000245907.4:p.Leu319= | |
| ENST00000594270.5:n.81G>A | ||
| ENST00000595577.1:n.461G>A | ||
| ENST00000597442.5:n.207G>A | ||
| NM_000064.3:c.957G>A | NP_000055.2:p.Leu319= | |
| NM_000064.4:c.957G>A MANE Select | NP_000055.2:p.Leu319= |