Linked Data
ClinVar Variation Id:
2162264
ClinVar RCV Id:
RCV003091190
dbSNP Id:
rs543771454
ExAC:
5:147211112 C / T
gnomAD v2:
5-147211112-C-T
gnomAD v3:
5-147831549-C-T
gnomAD v4:
5-147831549-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147831549C>T , CM000667.2:g.147831549C>T | GRCh38 |
| NC_000005.9:g.147211112C>T , CM000667.1:g.147211112C>T | GRCh37 |
| NC_000005.8:g.147191305C>T | NCBI36 |
| NG_008356.2:g.12683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296695.10:c.29G>A MANE Select | ENSP00000296695.5:p.Ser10Asn | |
| ENST00000296695.9:c.29G>A | ENSP00000296695.5:p.Ser10Asn | |
| ENST00000510027.2:c.29G>A | ENSP00000427376.1:p.Ser10Asn | |
| NM_003122.4:c.29G>A | NP_003113.2:p.Ser10Asn | |
| NM_001354966.1:c.29G>A | NP_001341895.1:p.Ser10Asn | |
| NM_001354966.2:c.29G>A | NP_001341895.1:p.Ser10Asn | |
| NM_001379610.1:c.29G>A MANE Select | NP_001366539.1:p.Ser10Asn | |
| NM_003122.5:c.29G>A | NP_003113.2:p.Ser10Asn |