Linked Data
ClinVar Variation Id:
2851301
ClinVar RCV Id:
RCV003691082
dbSNP Id:
rs779219365
ExAC:
19:6679479 C / T
gnomAD v2:
19-6679479-C-T
gnomAD v3:
19-6679468-C-T
gnomAD v4:
19-6679468-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6679468C>T , CM000681.2:g.6679468C>T | GRCh38 |
| NC_000019.9:g.6679479C>T , CM000681.1:g.6679479C>T | GRCh37 |
| NC_000019.8:g.6630479C>T | NCBI36 |
| NG_009557.1:g.46184G>A , LRG_27:g.46184G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2833G>A | ||
| ENST00000695653.1:c.2394G>A | ENSP00000512084.1:p.Pro798= | |
| ENST00000695654.1:c.3510G>A | ENSP00000512085.1:p.Pro1170= | |
| ENST00000695689.1:c.456G>A | ENSP00000512101.1:n.456G>A | |
| ENST00000695690.1:n.1550G>A | ||
| ENST00000695691.1:n.1346G>A | ||
| ENST00000245907.11:c.4485G>A MANE Select | ENSP00000245907.4:p.Pro1495= | |
| ENST00000245907.10:c.4485G>A | ENSP00000245907.4:p.Pro1495= | |
| ENST00000599668.1:n.80G>A | ||
| ENST00000599899.5:n.1444G>A | ||
| ENST00000601008.1:c.242-1510G>A | ENSP00000471384.1:n.242-1510G>A | |
| NM_000064.3:c.4485G>A | NP_000055.2:p.Pro1495= | |
| NM_000064.4:c.4485G>A MANE Select | NP_000055.2:p.Pro1495= |