Linked Data
ClinVar Variation Id:
1223254
ClinVar RCV Id:
RCV001596194
dbSNP Id:
rs3745568
ExAC:
19:6690613 T / G
gnomAD v2:
19-6690613-T-G
gnomAD v3:
19-6690602-T-G
gnomAD v4:
19-6690602-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6690602T>G , CM000681.2:g.6690602T>G | GRCh38 |
| NC_000019.9:g.6690613T>G , CM000681.1:g.6690613T>G | GRCh37 |
| NC_000019.8:g.6641613T>G | NCBI36 |
| NG_009557.1:g.35050A>C , LRG_27:g.35050A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695651.1:n.1837+27A>C | ||
| ENST00000695652.1:c.3366+27A>C | ENSP00000512083.1:n.3366+27A>C | |
| ENST00000695653.1:c.1398+27A>C | ENSP00000512084.1:n.1398+27A>C | |
| ENST00000695654.1:c.2514+2322A>C | ENSP00000512085.1:n.2514+2322A>C | |
| ENST00000695655.1:c.2430+27A>C | ENSP00000512086.1:n.2430+27A>C | |
| ENST00000695692.1:n.2853+27A>C | ||
| ENST00000245907.11:c.3489+27A>C MANE Select | ENSP00000245907.4:n.3489+27A>C | |
| ENST00000245907.10:c.3489+27A>C | ENSP00000245907.4:n.3489+27A>C | |
| ENST00000598805.2:n.259+27A>C | ||
| ENST00000601008.1:c.84+27A>C | ENSP00000471384.1:n.84+27A>C | |
| NM_000064.3:c.3489+27A>C | NP_000055.2:n.3489+27A>C | |
| NM_000064.4:c.3489+27A>C MANE Select | NP_000055.2:n.3489+27A>C |