Linked Data
ClinVar Variation Id:
359620
ClinVar RCV Id:
RCV000378405
dbSNP Id:
rs373365959
ExAC:
7:21640794 A / T
gnomAD v2:
7-21640794-A-T
gnomAD v3:
7-21601176-A-T
gnomAD v4:
7-21601176-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21601176A>T , CM000669.2:g.21601176A>T | GRCh38 |
| NC_000007.13:g.21640794A>T , CM000669.1:g.21640794A>T | GRCh37 |
| NC_000007.12:g.21607319A>T | NCBI36 |
| NG_012886.2:g.62962A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.3422A>T MANE Select | ENSP00000475939.1:p.Asp1141Val | |
| ENST00000328843.10:c.3422A>T | ENSP00000330671.7:p.Asp1141Val | |
| ENST00000409508.7:c.3422A>T | ENSP00000475939.1:p.Asp1141Val | |
| ENST00000620169.4:c.3422A>T | ENSP00000481693.1:p.Asp1141Val | |
| NM_001277115.1:c.3422A>T | NP_001264044.1:p.Asp1141Val | |
| NM_001277115.2:c.3422A>T MANE Select | NP_001264044.1:p.Asp1141Val |