Linked Data
ClinVar Variation Id:
340232
dbSNP Id:
rs780751282
ExAC:
21:46910269 C / T
gnomAD v2:
21-46910269-C-T
gnomAD v3:
21-45490355-C-T
gnomAD v4:
21-45490355-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45490355C>T , CM000683.2:g.45490355C>T | GRCh38 |
| NC_000021.8:g.46910269C>T , CM000683.1:g.46910269C>T | GRCh37 |
| NC_000021.7:g.45734697C>T | NCBI36 |
| NG_011903.1:g.90173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.2571+9C>T | ENSP00000347665.5:n.2571+9C>T | |
| ENST00000651438.1:c.2031+9C>T MANE Select | ENSP00000498485.1:n.2031+9C>T | |
| ENST00000342220.9:c.72+9C>T | ENSP00000339118.5:n.72+9C>T | |
| ENST00000355480.9:c.2571+9C>T | ENSP00000347665.5:n.2571+9C>T | |
| ENST00000359759.8:c.3276+9C>T | ENSP00000352798.4:n.3276+9C>T | |
| ENST00000400337.6:c.2031+9C>T | ENSP00000383191.2:n.2031+9C>T | |
| NM_030582.3:c.2571+9C>T | NP_085059.2:n.2571+9C>T | |
| NM_130444.2:c.3276+9C>T | NP_569711.2:n.3276+9C>T | |
| NM_130445.3:c.2031+9C>T | NP_569712.2:n.2031+9C>T | |
| NM_030582.4:c.2571+9C>T | NP_085059.2:n.2571+9C>T | |
| NM_130444.3:c.3276+9C>T | NP_569711.2:n.3276+9C>T | |
| NM_130445.4:c.2031+9C>T | NP_569712.2:n.2031+9C>T | |
| NM_001379500.1:c.2031+9C>T MANE Select | NP_001366429.1:n.2031+9C>T |