Linked Data
ClinVar Variation Id:
281019
dbSNP Id:
rs143907628
ExAC:
12:102179861 A / T
gnomAD v2:
12-102179861-A-T
gnomAD v3:
12-101786083-A-T
gnomAD v4:
12-101786083-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786083A>T , CM000674.2:g.101786083A>T | GRCh38 |
| NC_000012.11:g.102179861A>T , CM000674.1:g.102179861A>T | GRCh37 |
| NC_000012.10:g.100703992A>T | NCBI36 |
| NG_021243.1:g.49785T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.500T>A MANE Select | ENSP00000299314.7:p.Ile167Asn | |
| ENST00000299314.11:c.500T>A | ENSP00000299314.7:p.Ile167Asn | |
| ENST00000549940.5:c.500T>A | ENSP00000449150.1:p.Ile167Asn | |
| ENST00000550352.1:n.294T>A | ||
| ENST00000552681.1:c.134T>A | ENSP00000449217.1:p.Ile45Asn | |
| NM_024312.4:c.500T>A | NP_077288.2:p.Ile167Asn | |
| XM_006719593.2:c.500T>A | XP_006719656.1:p.Ile167Asn | |
| XM_011538731.1:c.419T>A | XP_011537033.1:p.Ile140Asn | |
| XM_006719593.3:c.500T>A | XP_006719656.1:p.Ile167Asn | |
| XM_011538731.2:c.419T>A | XP_011537033.1:p.Ile140Asn | |
| XM_017019961.1:c.284T>A | XP_016875450.1:p.Ile95Asn | |
| XM_017019962.2:c.-851T>A | XP_016875451.1:n.-851T>A | |
| NM_024312.5:c.500T>A MANE Select | NP_077288.2:p.Ile167Asn |