Linked Data
ClinVar Variation Id:
1336788
dbSNP Id:
rs369993135
ExAC:
19:6681946 C / A
gnomAD v2:
19-6681946-C-A
gnomAD v3:
19-6681935-C-A
gnomAD v4:
19-6681935-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6681935C>A , CM000681.2:g.6681935C>A | GRCh38 |
| NC_000019.9:g.6681946C>A , CM000681.1:g.6681946C>A | GRCh37 |
| NC_000019.8:g.6632946C>A | NCBI36 |
| NG_009557.1:g.43717G>T , LRG_27:g.43717G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2698+6G>T | ||
| ENST00000695653.1:c.2259+6G>T | ENSP00000512084.1:n.2259+6G>T | |
| ENST00000695654.1:c.3375+6G>T | ENSP00000512085.1:n.3375+6G>T | |
| ENST00000695689.1:c.321+6G>T | ENSP00000512101.1:n.321+6G>T | |
| ENST00000695690.1:n.547G>T | ||
| ENST00000695691.1:n.547G>T | ||
| ENST00000245907.11:c.4350+6G>T MANE Select | ENSP00000245907.4:n.4350+6G>T | |
| ENST00000245907.10:c.4350+6G>T | ENSP00000245907.4:n.4350+6G>T | |
| ENST00000596548.1:c.471+6G>T | ENSP00000469744.1:n.471+6G>T | |
| ENST00000599899.5:n.1309+6G>T | ||
| ENST00000601008.1:c.242-3977G>T | ENSP00000471384.1:n.242-3977G>T | |
| NM_000064.3:c.4350+6G>T | NP_000055.2:n.4350+6G>T | |
| NM_000064.4:c.4350+6G>T MANE Select | NP_000055.2:n.4350+6G>T |