Linked Data
ClinVar Variation Id:
420609
dbSNP Id:
rs1190625
ExAC:
11:66114030 G / A
gnomAD v2:
11-66114030-G-A
gnomAD v3:
11-66346559-G-A
gnomAD v4:
11-66346559-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66346559G>A , CM000673.2:g.66346559G>A | GRCh38 |
| NC_000011.9:g.66114030G>A , CM000673.1:g.66114030G>A | GRCh37 |
| NC_000011.8:g.65870606G>A | NCBI36 |
| NG_033202.1:g.6132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311181.5:c.987C>T MANE Select | ENSP00000309096.4:p.Tyr329= | |
| ENST00000311181.4:c.987C>T | ENSP00000309096.4:p.Tyr329= | |
| NM_006876.2:c.987C>T | NP_006867.1:p.Tyr329= | |
| NM_006876.3:c.987C>T MANE Select | NP_006867.1:p.Tyr329= |