Linked Data
ClinVar Variation Id:
555
dbSNP Id:
rs149067146
ExAC:
18:55240476 A / C
gnomAD v2:
18-55240476-A-C
gnomAD v3:
18-57573244-A-C
gnomAD v4:
18-57573244-A-C
PubMed:
PMID:9649563
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57573244A>C , CM000680.2:g.57573244A>C | GRCh38 |
| NC_000018.9:g.55240476A>C , CM000680.1:g.55240476A>C | GRCh37 |
| NC_000018.8:g.53391474A>C | NCBI36 |
| NG_008175.1:g.18494T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592699.6:c.314+2T>G | ENSP00000466263.1:n.314+2T>G | |
| ENST00000682485.1:n.426+2T>G | ||
| ENST00000262093.11:c.314+2T>G MANE Select | ENSP00000262093.6:n.314+2T>G | |
| ENST00000382873.8:c.98+2T>G | ENSP00000372326.4:n.98+2T>G | |
| ENST00000651787.1:n.420+2T>G | ||
| ENST00000652755.1:c.332+2T>G | ENSP00000498358.1:n.332+2T>G | |
| ENST00000262093.9:c.314+2T>G | ENSP00000262093.5:n.314+2T>G | |
| ENST00000382873.7:c.332+2T>G | ENSP00000372326.3:n.332+2T>G | |
| ENST00000585494.5:c.314+2T>G | ENSP00000465243.1:n.314+2T>G | |
| ENST00000585699.1:n.266+2T>G | ||
| ENST00000585747.1:c.314+2T>G | ENSP00000465717.1:n.314+2T>G | |
| ENST00000585878.1:n.368T>G | ||
| ENST00000591215.5:c.98+2T>G | ENSP00000467461.1:n.98+2T>G | |
| ENST00000592111.1:n.317T>G | ||
| ENST00000592699.5:c.314+2T>G | ENSP00000466263.1:n.314+2T>G | |
| NM_000140.3:c.314+2T>G | NP_000131.2:n.314+2T>G | |
| NM_001012515.2:c.332+2T>G | NP_001012533.1:n.332+2T>G | |
| XM_011525881.1:c.332+2T>G | XP_011524183.1:n.332+2T>G | |
| XM_011525882.1:c.98+2T>G | XP_011524184.1:n.98+2T>G | |
| NM_000140.4:c.314+2T>G | NP_000131.2:n.314+2T>G | |
| NM_001012515.3:c.332+2T>G | NP_001012533.1:n.332+2T>G | |
| XM_011525882.2:c.98+2T>G | XP_011524184.1:n.98+2T>G | |
| XM_017025614.2:c.314+2T>G | XP_016881103.1:n.314+2T>G | |
| NM_000140.5:c.314+2T>G MANE Select | NP_000131.2:n.314+2T>G | |
| NM_001012515.4:c.332+2T>G | NP_001012533.1:n.332+2T>G | |
| NM_001371094.1:c.314+2T>G | NP_001358023.1:n.314+2T>G | |
| NM_001371095.1:c.98+2T>G | NP_001358024.1:n.98+2T>G | |
| NM_001374778.1:c.314+2T>G | NP_001361707.1:n.314+2T>G |