Linked Data
ClinVar Variation Id:
1645767
dbSNP Id:
rs375382978
ExAC:
19:6679520 G / A
gnomAD v2:
19-6679520-G-A
gnomAD v3:
19-6679509-G-A
gnomAD v4:
19-6679509-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6679509G>A , CM000681.2:g.6679509G>A | GRCh38 |
| NC_000019.9:g.6679520G>A , CM000681.1:g.6679520G>A | GRCh37 |
| NC_000019.8:g.6630520G>A | NCBI36 |
| NG_009557.1:g.46143C>T , LRG_27:g.46143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2805-13C>T | ||
| ENST00000695653.1:c.2366-13C>T | ENSP00000512084.1:n.2366-13C>T | |
| ENST00000695654.1:c.3482-13C>T | ENSP00000512085.1:n.3482-13C>T | |
| ENST00000695689.1:c.428-13C>T | ENSP00000512101.1:n.428-13C>T | |
| ENST00000695690.1:n.1522-13C>T | ||
| ENST00000695691.1:n.1318-13C>T | ||
| ENST00000245907.11:c.4457-13C>T MANE Select | ENSP00000245907.4:n.4457-13C>T | |
| ENST00000245907.10:c.4457-13C>T | ENSP00000245907.4:n.4457-13C>T | |
| ENST00000599668.1:n.52-13C>T | ||
| ENST00000599899.5:n.1416-13C>T | ||
| ENST00000601008.1:c.242-1551C>T | ENSP00000471384.1:n.242-1551C>T | |
| NM_000064.3:c.4457-13C>T | NP_000055.2:n.4457-13C>T | |
| NM_000064.4:c.4457-13C>T MANE Select | NP_000055.2:n.4457-13C>T |