Linked Data
ClinVar Variation Id:
323268
ClinVar RCV Id:
RCV000397185
dbSNP Id:
rs709631
gnomAD v2:
17-40555939-A-T
gnomAD v3:
17-42403921-A-T
gnomAD v4:
17-42403921-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42403921A>T , CM000679.2:g.42403921A>T | GRCh38 |
| NC_000017.10:g.40555939A>T , CM000679.1:g.40555939A>T | GRCh37 |
| NC_000017.9:g.37809465A>T | NCBI36 |
| NG_015845.1:g.24400T>A | |
| NG_015845.2:g.24400T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357037.6:c.*766T>A MANE Select | ENSP00000349541.4:n.*766T>A | |
| ENST00000357037.5:c.*766T>A | ENSP00000349541.4:n.*766T>A | |
| NM_012232.5:c.*766T>A | NP_036364.2:n.*766T>A | |
| NM_012232.6:c.*766T>A MANE Select | NP_036364.2:n.*766T>A |