Linked Data
ClinVar Variation Id:
66530
dbSNP Id:
rs201507031
ExAC:
12:53291272 C / A
gnomAD v2:
12-53291272-C-A
gnomAD v3:
12-52897488-C-A
gnomAD v4:
12-52897488-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52897488C>A , CM000674.2:g.52897488C>A | GRCh38 |
| NC_000012.11:g.53291272C>A , CM000674.1:g.53291272C>A | GRCh37 |
| NC_000012.10:g.51577539C>A | NCBI36 |
| NG_008402.1:g.12597G>T | |
| NG_008402.2:g.57379G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692008.1:c.1392G>T MANE Select | ENSP00000509398.1:p.Lys464Asn | |
| ENST00000293308.11:c.1392G>T | ENSP00000293308.6:p.Lys464Asn | |
| ENST00000546583.5:n.2582G>T | ||
| ENST00000546897.5:c.1392G>T | ENSP00000447402.1:p.Lys464Asn | |
| ENST00000550170.5:n.1930G>T | ||
| ENST00000552150.5:c.1476G>T | ENSP00000449404.1:p.Lys492Asn | |
| ENST00000552551.5:c.1392G>T | ENSP00000447566.1:p.Lys464Asn | |
| NM_001256282.1:c.1476G>T | NP_001243211.1:p.Lys492Asn | |
| NM_001256293.1:c.1392G>T | NP_001243222.1:p.Lys464Asn | |
| NM_002273.3:c.1392G>T | NP_002264.1:p.Lys464Asn | |
| NR_045962.1:n.1849G>T | ||
| NM_001256282.2:c.1476G>T | NP_001243211.1:p.Lys492Asn | |
| NM_001256293.2:c.1392G>T | NP_001243222.1:p.Lys464Asn | |
| NM_002273.4:c.1392G>T MANE Select | NP_002264.1:p.Lys464Asn | |
| NR_045962.2:n.1843G>T |