Linked Data
ClinVar Variation Id:
884748
ClinVar RCV Id:
RCV001115957
dbSNP Id:
rs778618588
ExAC:
15:40943671 A / G
gnomAD v2:
15-40943671-A-G
gnomAD v3:
15-40651473-A-G
gnomAD v4:
15-40651473-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40651473A>G , CM000677.2:g.40651473A>G | GRCh38 |
| NC_000015.9:g.40943671A>G , CM000677.1:g.40943671A>G | GRCh37 |
| NC_000015.8:g.38730963A>G | NCBI36 |
| NG_033114.1:g.62225A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.6215A>G MANE Select | ENSP00000382576.3:p.Asn2072Ser | |
| ENST00000346991.9:c.6293A>G | ENSP00000335463.6:p.Asn2098Ser | |
| ENST00000399668.6:c.6215A>G | ENSP00000382576.2:p.Asn2072Ser | |
| ENST00000526913.5:c.3348A>G | ||
| ENST00000532347.1:n.295A>G | ||
| NM_144508.4:c.6215A>G | NP_653091.3:p.Asn2072Ser | |
| NM_170589.4:c.6293A>G | NP_733468.3:p.Asn2098Ser | |
| XM_011521816.1:c.5891A>G | XP_011520118.1:p.Asn1964Ser | |
| XM_011521817.1:c.6215A>G | XP_011520119.1:p.Asn2072Ser | |
| XM_017022432.1:c.5891A>G | XP_016877921.1:p.Asn1964Ser | |
| NM_144508.5:c.6215A>G MANE Select | NP_653091.3:p.Asn2072Ser | |
| NM_170589.5:c.6293A>G | NP_733468.3:p.Asn2098Ser |