Linked Data
ClinVar Variation Id:
13760
dbSNP Id:
rs17107315
ExAC:
5:147207678 T / C
gnomAD v2:
5-147207678-T-C
gnomAD v3:
5-147828115-T-C
gnomAD v4:
5-147828115-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147828115T>C , CM000667.2:g.147828115T>C | GRCh38 |
| NC_000005.9:g.147207678T>C , CM000667.1:g.147207678T>C | GRCh37 |
| NC_000005.8:g.147187871T>C | NCBI36 |
| NG_008356.2:g.16117A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296695.10:c.101A>G MANE Select | ENSP00000296695.5:p.Asn34Ser | |
| ENST00000296695.9:c.101A>G | ENSP00000296695.5:p.Asn34Ser | |
| ENST00000505722.1:n.16A>G | ||
| ENST00000510027.2:c.101A>G | ENSP00000427376.1:p.Asn34Ser | |
| NM_003122.4:c.101A>G | NP_003113.2:p.Asn34Ser | |
| NM_001354966.1:c.101A>G | NP_001341895.1:p.Asn34Ser | |
| NM_001354966.2:c.101A>G | NP_001341895.1:p.Asn34Ser | |
| NM_001379610.1:c.101A>G MANE Select | NP_001366539.1:p.Asn34Ser | |
| NM_003122.5:c.101A>G | NP_003113.2:p.Asn34Ser |