Linked Data
ClinVar Variation Id:
2623890
ClinVar RCV Id:
RCV004360613
dbSNP Id:
rs769327915
ExAC:
11:65339009 C / T
gnomAD v2:
11-65339009-C-T
gnomAD v4:
11-65571538-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65571538C>T , CM000673.2:g.65571538C>T | GRCh38 |
| NC_000011.9:g.65339009C>T , CM000673.1:g.65339009C>T | GRCh37 |
| NC_000011.8:g.65095585C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309328.8:c.404C>T MANE Select | ENSP00000312318.3:p.Ala135Val | |
| ENST00000309328.7:c.404C>T | ENSP00000312318.3:p.Ala135Val | |
| ENST00000526433.1:c.159+568C>T | ||
| ENST00000526877.1:c.*142C>T | ENSP00000431666.1:n.*142C>T | |
| ENST00000527413.1:n.302C>T | ||
| ENST00000527920.5:c.145+568C>T | ENSP00000432938.1:n.145+568C>T | |
| ENST00000531405.5:c.293C>T | ENSP00000434381.1:p.Ala98Val | |
| ENST00000533115.5:c.386C>T | ENSP00000435432.1:p.Ala129Val | |
| NM_001303024.1:c.293C>T | NP_001289953.1:p.Ala98Val | |
| NM_006396.2:c.404C>T | NP_006387.1:p.Ala135Val | |
| NM_006396.3:c.404C>T MANE Select | NP_006387.1:p.Ala135Val | |
| NM_001303024.2:c.293C>T | NP_001289953.1:p.Ala98Val |