Linked Data
ClinVar Variation Id:
529136
ClinVar RCV Id:
RCV000634437
dbSNP Id:
rs767621375
ExAC:
7:82996910 C / A
gnomAD v2:
7-82996910-C-A
gnomAD v3:
7-83367594-C-A
gnomAD v4:
7-83367594-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83367594C>A , CM000669.2:g.83367594C>A | GRCh38 |
| NC_000007.13:g.82996910C>A , CM000669.1:g.82996910C>A | GRCh37 |
| NC_000007.12:g.82834846C>A | NCBI36 |
| NG_021242.1:g.286570G>T | |
| NG_021242.2:g.286570G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.2140G>T | ENSP00000405052.1:p.Asp714Tyr | |
| ENST00000643230.2:c.2320G>T MANE Select | ENSP00000496491.1:p.Asp774Tyr | |
| ENST00000643441.1:n.2305G>T | ||
| ENST00000307792.7:c.2320G>T | ENSP00000303212.3:p.Asp774Tyr | |
| ENST00000427262.5:c.2140G>T | ENSP00000405052.1:p.Asp714Tyr | |
| NM_001178129.1:c.2140G>T | NP_001171600.1:p.Asp714Tyr | |
| NM_012431.2:c.2320G>T | NP_036563.1:p.Asp774Tyr | |
| NM_012431.3:c.2320G>T MANE Select | NP_036563.1:p.Asp774Tyr | |
| NM_001178129.2:c.2140G>T | NP_001171600.1:p.Asp714Tyr |