Linked Data
ClinVar Variation Id:
2368539
ClinVar RCV Id:
RCV004205093
dbSNP Id:
rs143236582
ExAC:
12:70087583 C / T
gnomAD v2:
12-70087583-C-T
gnomAD v3:
12-69693803-C-T
gnomAD v4:
12-69693803-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69693803C>T , CM000674.2:g.69693803C>T | GRCh38 |
| NC_000012.11:g.70087583C>T , CM000674.1:g.70087583C>T | GRCh37 |
| NC_000012.10:g.68373850C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330891.10:c.352G>A MANE Select | ENSP00000332413.5:p.Asp118Asn | |
| ENST00000266661.8:c.34G>A | ENSP00000266661.4:p.Asp12Asn | |
| ENST00000330891.9:c.352G>A | ENSP00000332413.5:p.Asp118Asn | |
| ENST00000331471.8:c.352G>A | ENSP00000329064.4:p.Asp118Asn | |
| ENST00000476098.5:c.-80G>A | ENSP00000434713.1:n.-80G>A | |
| ENST00000533674.1:n.340G>A | ||
| ENST00000547208.5:c.-33G>A | ENSP00000449868.1:n.-33G>A | |
| ENST00000548658.1:c.247+567G>A | ENSP00000446575.1:n.247+567G>A | |
| ENST00000551160.5:c.34G>A | ENSP00000449377.1:p.Asp12Asn | |
| ENST00000552295.5:c.34G>A | ENSP00000447689.1:p.Asp12Asn | |
| ENST00000553096.5:c.34G>A | ENSP00000449548.1:p.Asp12Asn | |
| NM_001282613.1:c.34G>A | NP_001269542.1:p.Asp12Asn | |
| NM_001282614.1:c.352G>A | NP_001269543.1:p.Asp118Asn | |
| NM_001282615.1:c.34G>A | NP_001269544.1:p.Asp12Asn | |
| NM_001282616.1:c.34G>A | NP_001269545.1:p.Asp12Asn | |
| NM_032735.2:c.352G>A | NP_116124.2:p.Asp118Asn | |
| XM_005268674.2:c.352G>A | XP_005268731.1:p.Asp118Asn | |
| XM_006719252.2:c.247+567G>A | XP_006719315.1:n.247+567G>A | |
| XM_006719256.2:c.352G>A | XP_006719319.1:p.Asp118Asn | |
| XM_011537961.1:c.34G>A | XP_011536263.1:p.Asp12Asn | |
| XM_011537963.1:c.-6+3844G>A | XP_011536265.1:n.-6+3844G>A | |
| XM_024448853.1:c.352G>A | XP_024304621.1:p.Asp118Asn | |
| XM_024448854.1:c.34G>A | XP_024304622.1:p.Asp12Asn | |
| XM_024448855.1:c.-80G>A | XP_024304623.1:n.-80G>A | |
| XM_024448856.1:c.-6+5402G>A | XP_024304624.1:n.-6+5402G>A | |
| XM_024448857.1:c.34G>A | XP_024304625.1:p.Asp12Asn | |
| NM_032735.3:c.352G>A MANE Select | NP_116124.2:p.Asp118Asn | |
| NM_001282615.2:c.34G>A | NP_001269544.1:p.Asp12Asn | |
| NM_001282616.2:c.34G>A | NP_001269545.1:p.Asp12Asn | |
| NM_001282613.2:c.34G>A | NP_001269542.1:p.Asp12Asn | |
| NM_001282614.2:c.352G>A | NP_001269543.1:p.Asp118Asn |