Linked Data
ClinVar Variation Id:
379751
ClinVar RCV Id:
RCV000659364
RCV001085772
RCV001123188
RCV001127266
RCV001703567
RCV001123187
RCV002278663
RCV002328934
dbSNP Id:
rs147266928
ExAC:
17:48263206 T / C
gnomAD v2:
17-48263206-T-C
gnomAD v3:
17-50185845-T-C
gnomAD v4:
17-50185845-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185845T>C , CM000679.2:g.50185845T>C | GRCh38 |
| NC_000017.10:g.48263206T>C , CM000679.1:g.48263206T>C | GRCh37 |
| NC_000017.9:g.45618205T>C | NCBI36 |
| NG_007400.1:g.20795A>G , LRG_1:g.20795A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4181A>G MANE Select | ENSP00000225964.6:p.Asn1394Ser | |
| ENST00000225964.9:c.4181A>G | ENSP00000225964.5:p.Asn1394Ser | |
| ENST00000510710.3:n.1146A>G | ||
| NM_000088.3:c.4181A>G , LRG_1t1:c.4181A>G | NP_000079.2:p.Asn1394Ser | |
| XM_005257058.3:c.3911A>G | XP_005257115.2:p.Asn1304Ser | |
| XM_005257059.3:c.3263A>G | XP_005257116.2:p.Asn1088Ser | |
| XM_011524341.1:c.3983A>G | XP_011522643.1:p.Asn1328Ser | |
| XM_005257058.4:c.3911A>G | XP_005257115.2:p.Asn1304Ser | |
| XM_005257059.4:c.3263A>G | XP_005257116.2:p.Asn1088Ser | |
| NM_000088.4:c.4181A>G MANE Select | NP_000079.2:p.Asn1394Ser |