Linked Data
ClinVar Variation Id:
2773348
ClinVar RCV Id:
RCV003528031
dbSNP Id:
rs2043404005
gnomAD v3:
15-48474535-C-A
gnomAD v4:
15-48474535-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48474535C>A , CM000677.2:g.48474535C>A | GRCh38 |
| NC_000015.9:g.48766732C>A , CM000677.1:g.48766732C>A | GRCh37 |
| NC_000015.8:g.46554024C>A | NCBI36 |
| NG_008805.2:g.176254G>T , LRG_778:g.176254G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4080G>T | ENSP00000453958.2:p.Lys1360Asn | |
| ENST00000674301.2:c.4080G>T | ENSP00000501333.2:p.Lys1360Asn | |
| ENST00000684448.1:n.2754G>T | ||
| ENST00000316623.10:c.4080G>T MANE Select | ENSP00000325527.5:p.Lys1360Asn | |
| ENST00000316623.9:c.4080G>T | ENSP00000325527.5:p.Lys1360Asn | |
| ENST00000537463.6:c.752G>T | ENSP00000440294.2:p.Ser251Ile | |
| NM_000138.4:c.4080G>T , LRG_778t1:c.4080G>T | NP_000129.3:p.Lys1360Asn | |
| NM_000138.5:c.4080G>T MANE Select | NP_000129.3:p.Lys1360Asn |