Linked Data
ClinVar Variation Id:
1963012
ClinVar RCV Id:
RCV002710842
dbSNP Id:
rs749677615
ExAC:
19:6679451 G / A
gnomAD v2:
19-6679451-G-A
gnomAD v3:
19-6679440-G-A
gnomAD v4:
19-6679440-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6679440G>A , CM000681.2:g.6679440G>A | GRCh38 |
| NC_000019.9:g.6679451G>A , CM000681.1:g.6679451G>A | GRCh37 |
| NC_000019.8:g.6630451G>A | NCBI36 |
| NG_009557.1:g.46212C>T , LRG_27:g.46212C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2861C>T | ||
| ENST00000695653.1:c.2422C>T | ENSP00000512084.1:p.Leu808Phe | |
| ENST00000695654.1:c.3538C>T | ENSP00000512085.1:p.Leu1180Phe | |
| ENST00000695689.1:c.484C>T | ENSP00000512101.1:n.484C>T | |
| ENST00000695690.1:n.1578C>T | ||
| ENST00000695691.1:n.1374C>T | ||
| ENST00000245907.11:c.4513C>T MANE Select | ENSP00000245907.4:p.Leu1505Phe | |
| ENST00000245907.10:c.4513C>T | ENSP00000245907.4:p.Leu1505Phe | |
| ENST00000599668.1:n.108C>T | ||
| ENST00000599899.5:n.1472C>T | ||
| ENST00000601008.1:c.242-1482C>T | ENSP00000471384.1:n.242-1482C>T | |
| NM_000064.3:c.4513C>T | NP_000055.2:p.Leu1505Phe | |
| NM_000064.4:c.4513C>T MANE Select | NP_000055.2:p.Leu1505Phe |