Linked Data
ClinVar Variation Id:
1230447
ClinVar RCV Id:
RCV001614904
dbSNP Id:
rs10411506
ExAC:
19:6710948 G / A
gnomAD v2:
19-6710948-G-A
gnomAD v3:
19-6710937-G-A
gnomAD v4:
19-6710937-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710937G>A , CM000681.2:g.6710937G>A | GRCh38 |
| NC_000019.9:g.6710948G>A , CM000681.1:g.6710948G>A | GRCh37 |
| NC_000019.8:g.6661948G>A | NCBI36 |
| NG_009557.1:g.14715C>T , LRG_27:g.14715C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695652.1:c.1356+50C>T | ENSP00000512083.1:n.1356+50C>T | |
| ENST00000695654.1:c.603+50C>T | ENSP00000512085.1:n.603+50C>T | |
| ENST00000695655.1:c.360+50C>T | ENSP00000512086.1:n.360+50C>T | |
| ENST00000695692.1:n.843+50C>T | ||
| ENST00000245907.11:c.1479+50C>T MANE Select | ENSP00000245907.4:n.1479+50C>T | |
| ENST00000245907.10:c.1479+50C>T | ENSP00000245907.4:n.1479+50C>T | |
| ENST00000600763.1:n.21C>T | ||
| NM_000064.3:c.1479+50C>T | NP_000055.2:n.1479+50C>T | |
| NM_000064.4:c.1479+50C>T MANE Select | NP_000055.2:n.1479+50C>T |