Linked Data
ClinVar Variation Id:
326471
ClinVar RCV Id:
RCV000400602
dbSNP Id:
rs776975980
ExAC:
18:29078269 G / T
gnomAD v2:
18-29078269-G-T
gnomAD v3:
18-31498306-G-T
gnomAD v4:
18-31498306-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31498306G>T , CM000680.2:g.31498306G>T | GRCh38 |
| NC_000018.9:g.29078269G>T , CM000680.1:g.29078269G>T | GRCh37 |
| NC_000018.8:g.27332267G>T | NCBI36 |
| NG_007072.3:g.5065G>T , LRG_397:g.5065G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682241.2:c.45+10G>T | ENSP00000507600.2:n.45+10G>T | |
| ENST00000683654.1:c.45+10G>T | ENSP00000506971.1:n.45+10G>T | |
| ENST00000261590.13:c.45+10G>T MANE Select | ENSP00000261590.8:n.45+10G>T | |
| ENST00000261590.12:c.45+10G>T | ENSP00000261590.8:n.45+10G>T | |
| ENST00000585206.1:c.45+10G>T | ENSP00000462503.1:n.45+10G>T | |
| NM_001943.3:c.45+10G>T , LRG_397t1:c.45+10G>T | NP_001934.2:n.45+10G>T | |
| NM_001943.4:c.45+10G>T | NP_001934.2:n.45+10G>T | |
| NM_001943.5:c.45+10G>T MANE Select | NP_001934.2:n.45+10G>T |