Linked Data
dbSNP Id:
rs374878628
ExAC:
19:6684895 C / A
gnomAD v2:
19-6684895-C-A
gnomAD v3:
19-6684884-C-A
gnomAD v4:
19-6684884-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6684884C>A , CM000681.2:g.6684884C>A | GRCh38 |
| NC_000019.9:g.6684895C>A , CM000681.1:g.6684895C>A | GRCh37 |
| NC_000019.8:g.6635895C>A | NCBI36 |
| NG_009557.1:g.40768G>T , LRG_27:g.40768G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2318-50G>T | ||
| ENST00000695653.1:c.1879-50G>T | ENSP00000512084.1:n.1879-50G>T | |
| ENST00000695654.1:c.2995-50G>T | ENSP00000512085.1:n.2995-50G>T | |
| ENST00000695690.1:n.161-50G>T | ||
| ENST00000695691.1:n.161-50G>T | ||
| ENST00000245907.11:c.3970-50G>T MANE Select | ENSP00000245907.4:n.3970-50G>T | |
| ENST00000245907.10:c.3970-50G>T | ENSP00000245907.4:n.3970-50G>T | |
| ENST00000596238.1:n.413-50G>T | ||
| ENST00000596548.1:c.52-50G>T | ENSP00000469744.1:n.52-50G>T | |
| ENST00000601008.1:c.241+1862G>T | ENSP00000471384.1:n.241+1862G>T | |
| NM_000064.3:c.3970-50G>T | NP_000055.2:n.3970-50G>T | |
| NM_000064.4:c.3970-50G>T MANE Select | NP_000055.2:n.3970-50G>T |