Linked Data
dbSNP Id:
rs201597793
ExAC:
19:6681925 T / C
gnomAD v2:
19-6681925-T-C
gnomAD v3:
19-6681914-T-C
gnomAD v4:
19-6681914-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6681914T>C , CM000681.2:g.6681914T>C | GRCh38 |
| NC_000019.9:g.6681925T>C , CM000681.1:g.6681925T>C | GRCh37 |
| NC_000019.8:g.6632925T>C | NCBI36 |
| NG_009557.1:g.43738A>G , LRG_27:g.43738A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2698+27A>G | ||
| ENST00000695653.1:c.2259+27A>G | ENSP00000512084.1:n.2259+27A>G | |
| ENST00000695654.1:c.3375+27A>G | ENSP00000512085.1:n.3375+27A>G | |
| ENST00000695689.1:c.321+27A>G | ENSP00000512101.1:n.321+27A>G | |
| ENST00000695690.1:n.568A>G | ||
| ENST00000695691.1:n.568A>G | ||
| ENST00000245907.11:c.4350+27A>G MANE Select | ENSP00000245907.4:n.4350+27A>G | |
| ENST00000245907.10:c.4350+27A>G | ENSP00000245907.4:n.4350+27A>G | |
| ENST00000596548.1:c.471+27A>G | ENSP00000469744.1:n.471+27A>G | |
| ENST00000599899.5:n.1309+27A>G | ||
| ENST00000601008.1:c.242-3956A>G | ENSP00000471384.1:n.242-3956A>G | |
| NM_000064.3:c.4350+27A>G | NP_000055.2:n.4350+27A>G | |
| NM_000064.4:c.4350+27A>G MANE Select | NP_000055.2:n.4350+27A>G |