Linked Data
ClinVar Variation Id:
625953
dbSNP Id:
rs768171759
ExAC:
15:45654348 C / T
gnomAD v2:
15-45654348-C-T
gnomAD v3:
15-45362150-C-T
gnomAD v4:
15-45362150-C-T
ERepo:
CA7542755/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45362150C>T , CM000677.2:g.45362150C>T | GRCh38 |
| NC_000015.9:g.45654348C>T , CM000677.1:g.45654348C>T | GRCh37 |
| NC_000015.8:g.43441640C>T | NCBI36 |
| NG_011674.1:g.21633G>A | |
| NG_011674.2:g.45168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.1231G>A MANE Select | ENSP00000379895.3:p.Asp411Asn | |
| ENST00000674905.1:c.*193G>A | ENSP00000502176.1:n.*193G>A | |
| ENST00000675158.1:c.*131G>A | ENSP00000501737.1:n.*131G>A | |
| ENST00000675323.1:c.*1733G>A | ENSP00000502445.1:n.*1733G>A | |
| ENST00000675701.1:c.1171G>A | ENSP00000502671.1:p.Asp391Asn | |
| ENST00000675974.1:n.3780G>A | ||
| ENST00000676090.1:c.*1962G>A | ENSP00000501630.1:n.*1962G>A | |
| ENST00000396659.7:c.1231G>A | ENSP00000379895.3:p.Asp411Asn | |
| ENST00000558362.5:n.2887G>A | ||
| NM_001482.2:c.1231G>A | NP_001473.1:p.Asp411Asn | |
| XM_011521450.1:c.1279G>A | XP_011519752.1:p.Asp427Asn | |
| XM_011521451.1:c.1273G>A | XP_011519753.1:p.Asp425Asn | |
| NM_001321015.1:c.844G>A | NP_001307944.1:p.Asp282Asn | |
| NM_001482.3:c.1231G>A MANE Select | NP_001473.1:p.Asp411Asn | |
| NM_001321015.2:c.844G>A | NP_001307944.1:p.Asp282Asn |