Linked Data
ClinVar Variation Id:
4337
dbSNP Id:
rs104894426
ExAC:
14:75475782 T / A
gnomAD v2:
14-75475782-T-A
gnomAD v3:
14-75009079-T-A
gnomAD v4:
14-75009079-T-A
PubMed:
PMID:11704758
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009079T>A , CM000676.2:g.75009079T>A | GRCh38 |
| NC_000014.8:g.75475782T>A , CM000676.1:g.75475782T>A | GRCh37 |
| NC_000014.7:g.74545535T>A | NCBI36 |
| NG_013333.1:g.11171T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266126.10:c.947T>A MANE Select | ENSP00000266126.5:p.Val316Asp | |
| ENST00000266126.9:c.947T>A | ENSP00000266126.5:p.Val316Asp | |
| ENST00000556668.1:n.527T>A | ||
| NM_014239.3:c.947T>A | NP_055054.1:p.Val316Asp | |
| NM_014239.4:c.947T>A MANE Select | NP_055054.1:p.Val316Asp |