Linked Data
ClinVar Variation Id:
550
dbSNP Id:
rs2269219
ExAC:
18:55247454 G / A
gnomAD v2:
18-55247454-G-A
gnomAD v3:
18-57580222-G-A
gnomAD v4:
18-57580222-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
PubMed:
PMID:1729699
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57580222G>A , CM000680.2:g.57580222G>A | GRCh38 |
| NC_000018.9:g.55247454G>A , CM000680.1:g.55247454G>A | GRCh37 |
| NC_000018.8:g.53398452G>A | NCBI36 |
| NG_008175.1:g.11516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592699.6:c.68-23C>T | ENSP00000466263.1:n.68-23C>T | |
| ENST00000682485.1:n.180-23C>T | ||
| ENST00000262093.11:c.68-23C>T MANE Select | ENSP00000262093.6:n.68-23C>T | |
| ENST00000382873.8:c.-149-23C>T | ENSP00000372326.4:n.-149-23C>T | |
| ENST00000651787.1:n.174-23C>T | ||
| ENST00000652755.1:c.68-23C>T | ENSP00000498358.1:n.68-23C>T | |
| ENST00000262093.9:c.68-23C>T | ENSP00000262093.5:n.68-23C>T | |
| ENST00000382873.7:c.68-23C>T | ENSP00000372326.3:n.68-23C>T | |
| ENST00000585494.5:c.68-23C>T | ENSP00000465243.1:n.68-23C>T | |
| ENST00000585699.1:n.146+6332C>T | ||
| ENST00000585747.1:c.68-23C>T | ENSP00000465717.1:n.68-23C>T | |
| ENST00000585878.1:n.102-23C>T | ||
| ENST00000591215.5:c.-149-23C>T | ENSP00000467461.1:n.-149-23C>T | |
| ENST00000592111.1:n.69-23C>T | ||
| ENST00000592699.5:c.68-23C>T | ENSP00000466263.1:n.68-23C>T | |
| NM_000140.3:c.68-23C>T | NP_000131.2:n.68-23C>T | |
| NM_001012515.2:c.68-23C>T | NP_001012533.1:n.68-23C>T | |
| XM_011525881.1:c.68-23C>T | XP_011524183.1:n.68-23C>T | |
| XM_011525882.1:c.-149-23C>T | XP_011524184.1:n.-149-23C>T | |
| NM_000140.4:c.68-23C>T | NP_000131.2:n.68-23C>T | |
| NM_001012515.3:c.68-23C>T | NP_001012533.1:n.68-23C>T | |
| XM_011525882.2:c.-149-23C>T | XP_011524184.1:n.-149-23C>T | |
| XM_017025614.2:c.68-23C>T | XP_016881103.1:n.68-23C>T | |
| NM_000140.5:c.68-23C>T MANE Select | NP_000131.2:n.68-23C>T | |
| NM_001012515.4:c.68-23C>T | NP_001012533.1:n.68-23C>T | |
| NM_001371094.1:c.68-23C>T | NP_001358023.1:n.68-23C>T | |
| NM_001371095.1:c.-149-23C>T | NP_001358024.1:n.-149-23C>T | |
| NM_001374778.1:c.68-23C>T | NP_001361707.1:n.68-23C>T |