Linked Data
ClinVar Variation Id:
447118
dbSNP Id:
rs200143450
ExAC:
21:46912440 C / T
gnomAD v2:
21-46912440-C-T
gnomAD v3:
21-45492526-C-T
gnomAD v4:
21-45492526-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45492526C>T , CM000683.2:g.45492526C>T | GRCh38 |
| NC_000021.8:g.46912440C>T , CM000683.1:g.46912440C>T | GRCh37 |
| NC_000021.7:g.45736868C>T | NCBI36 |
| NG_011903.1:g.92344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.2698-9C>T | ENSP00000347665.5:n.2698-9C>T | |
| ENST00000651438.1:c.2158-9C>T MANE Select | ENSP00000498485.1:n.2158-9C>T | |
| ENST00000342220.9:c.199-9C>T | ENSP00000339118.5:n.199-9C>T | |
| ENST00000355480.9:c.2698-9C>T | ENSP00000347665.5:n.2698-9C>T | |
| ENST00000359759.8:c.3403-9C>T | ENSP00000352798.4:n.3403-9C>T | |
| ENST00000400337.6:c.2158-9C>T | ENSP00000383191.2:n.2158-9C>T | |
| NM_030582.3:c.2698-9C>T | NP_085059.2:n.2698-9C>T | |
| NM_130444.2:c.3403-9C>T | NP_569711.2:n.3403-9C>T | |
| NM_130445.3:c.2158-9C>T | NP_569712.2:n.2158-9C>T | |
| NM_030582.4:c.2698-9C>T | NP_085059.2:n.2698-9C>T | |
| NM_130444.3:c.3403-9C>T | NP_569711.2:n.3403-9C>T | |
| NM_130445.4:c.2158-9C>T | NP_569712.2:n.2158-9C>T | |
| NM_001379500.1:c.2158-9C>T MANE Select | NP_001366429.1:n.2158-9C>T |