Linked Data
ClinVar Variation Id:
504721
dbSNP Id:
rs142977595
ExAC:
16:2374481 T / C
gnomAD v2:
16-2374481-T-C
gnomAD v3:
16-2324480-T-C
gnomAD v4:
16-2324480-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2324480T>C , CM000678.2:g.2324480T>C | GRCh38 |
| NC_000016.9:g.2374481T>C , CM000678.1:g.2374481T>C | GRCh37 |
| NC_000016.8:g.2314482T>C | NCBI36 |
| NG_011790.1:g.21267A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.371A>G MANE Select | ENSP00000301732.5:p.Asn124Ser | |
| ENST00000301732.9:c.371A>G | ENSP00000301732.5:p.Asn124Ser | |
| ENST00000382381.7:c.371A>G | ENSP00000371818.3:p.Asn124Ser | |
| ENST00000563623.5:n.934A>G | ||
| ENST00000567910.1:c.371A>G | ENSP00000454397.1:p.Asn124Ser | |
| NM_001089.2:c.371A>G | NP_001080.2:p.Asn124Ser | |
| NM_001089.3:c.371A>G MANE Select | NP_001080.2:p.Asn124Ser |