Linked Data
ClinVar Variation Id:
2235249
ClinVar RCV Id:
RCV004092526
dbSNP Id:
rs768413531
ExAC:
14:74409128 C / T
gnomAD v2:
14-74409128-C-T
gnomAD v3:
14-73942425-C-T
gnomAD v4:
14-73942425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73942425C>T , CM000676.2:g.73942425C>T | GRCh38 |
| NC_000014.8:g.74409128C>T , CM000676.1:g.74409128C>T | GRCh37 |
| NC_000014.7:g.73478881C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286544.5:c.1216G>A MANE Select | ENSP00000286544.4:p.Ala406Thr | |
| ENST00000651776.1:c.1405G>A | ENSP00000499021.1:p.Ala469Thr | |
| ENST00000286544.3:c.1405G>A | ENSP00000286544.3:p.Ala469Thr | |
| NM_152445.2:c.1405G>A | NP_689658.2:p.Ala469Thr | |
| XM_011536475.1:c.1405G>A | XP_011534777.1:p.Ala469Thr | |
| NM_152445.3:c.1216G>A MANE Select | NP_689658.3:p.Ala406Thr | |
| XM_011536475.2:c.1405G>A | XP_011534777.1:p.Ala469Thr |