Linked Data
ClinVar Variation Id:
143141
dbSNP Id:
rs80358282
ExAC:
11:86665923 G / A
gnomAD v2:
11-86665923-G-A
gnomAD v3:
11-86954881-G-A
gnomAD v4:
11-86954881-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954881G>A , CM000673.2:g.86954881G>A | GRCh38 |
| NC_000011.9:g.86665923G>A , CM000673.1:g.86665923G>A | GRCh37 |
| NC_000011.8:g.86343571G>A | NCBI36 |
| NG_011752.1:g.5511C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.205C>T MANE Select | ENSP00000434034.1:p.His69Tyr | |
| ENST00000531380.1:c.205C>T | ENSP00000434034.1:p.His69Tyr | |
| NM_012193.3:c.205C>T | NP_036325.2:p.His69Tyr | |
| NM_012193.4:c.205C>T MANE Select | NP_036325.2:p.His69Tyr |