Linked Data
ClinVar Variation Id:
2597562
ClinVar RCV Id:
RCV004342864
dbSNP Id:
rs768896121
ExAC:
11:67353935 T / A
gnomAD v2:
11-67353935-T-A
gnomAD v3:
11-67586464-T-A
gnomAD v4:
11-67586464-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586464T>A , CM000673.2:g.67586464T>A | GRCh38 |
| NC_000011.9:g.67353935T>A , CM000673.1:g.67353935T>A | GRCh37 |
| NC_000011.8:g.67110511T>A | NCBI36 |
| NG_012075.1:g.7870T>A , LRG_723:g.7870T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.412T>A | ENSP00000381604.1:p.Phe138Ile | |
| ENST00000398606.10:c.520T>A MANE Select | ENSP00000381607.3:p.Phe174Ile | |
| ENST00000646888.1:c.*236T>A | ENSP00000494477.1:n.*236T>A | |
| ENST00000398603.5:c.412T>A | ENSP00000381604.1:p.Phe138Ile | |
| ENST00000398606.7:c.520T>A | ENSP00000381607.3:p.Phe174Ile | |
| ENST00000467591.1:n.631T>A | ||
| ENST00000494593.1:n.1492T>A | ||
| ENST00000498765.5:c.583T>A | ||
| NM_000852.3:c.520T>A , LRG_723t1:c.520T>A | NP_000843.1:p.Phe174Ile | |
| NM_000852.4:c.520T>A MANE Select | NP_000843.1:p.Phe174Ile |