Linked Data
ClinVar Variation Id:
2637182
ClinVar RCV Id:
RCV003421169
dbSNP Id:
rs977792055
gnomAD v3:
17-43755634-T-C
gnomAD v4:
17-43755634-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755634T>C , CM000679.2:g.43755634T>C | GRCh38 |
| NC_000017.10:g.41833002T>C , CM000679.1:g.41833002T>C | GRCh37 |
| NC_000017.9:g.39188528T>C | NCBI36 |
| NG_008078.2:g.8155A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.350A>G MANE Select | ENSP00000301691.1:p.Asn117Ser | |
| ENST00000301691.2:c.350A>G | ENSP00000301691.1:p.Asn117Ser | |
| NM_025237.2:c.350A>G | NP_079513.1:p.Asn117Ser | |
| NM_025237.3:c.350A>G MANE Select | NP_079513.1:p.Asn117Ser |