Linked Data
ClinVar Variation Id:
1026100
ClinVar RCV Id:
RCV001326505
dbSNP Id:
rs114489761
ExAC:
7:17379437 A / C
gnomAD v2:
7-17379437-A-C
gnomAD v4:
7-17339813-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339813A>C , CM000669.2:g.17339813A>C | GRCh38 |
| NC_000007.13:g.17379437A>C , CM000669.1:g.17379437A>C | GRCh37 |
| NC_000007.12:g.17345962A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1988A>C MANE Select | ENSP00000242057.4:p.Asn663Thr | |
| ENST00000637807.1:c.1958A>C | ENSP00000490530.1:p.Asn653Thr | |
| ENST00000642825.1:c.1943A>C | ENSP00000495987.1:p.Asn648Thr | |
| ENST00000242057.8:c.1988A>C | ENSP00000242057.4:p.Asn663Thr | |
| ENST00000463496.1:c.1988A>C | ENSP00000436466.1:p.Asn663Thr | |
| NM_001621.4:c.1988A>C | NP_001612.1:p.Asn663Thr | |
| NM_001621.5:c.1988A>C MANE Select | NP_001612.1:p.Asn663Thr |