Linked Data
ClinVar Variation Id:
64574
ClinVar RCV Id:
RCV000054761
dbSNP Id:
rs387907542
ExAC:
7:142622780 G / A
gnomAD v2:
7-142622780-G-A
gnomAD v3:
7-142925685-G-A
gnomAD v4:
7-142925685-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142925685G>A , CM000669.2:g.142925685G>A | GRCh38 |
| NC_000007.13:g.142622780G>A , CM000669.1:g.142622780G>A | GRCh37 |
| NC_000007.12:g.142332902G>A | NCBI36 |
| NG_046912.1:g.13039C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265310.6:c.966C>T MANE Select | ENSP00000265310.1:p.Asn322= | |
| ENST00000265310.5:c.966C>T | ENSP00000265310.1:p.Asn322= | |
| ENST00000439304.5:c.801C>T | ENSP00000406361.1:p.Asn267= | |
| ENST00000442623.1:c.966C>T | ENSP00000406572.1:p.Asn322= | |
| NM_019841.6:c.966C>T | NP_062815.3:p.Asn322= | |
| NM_019841.7:c.966C>T MANE Select | NP_062815.3:p.Asn322= |