Linked Data
ClinVar Variation Id:
402162
ClinVar RCV Id:
RCV000454237
dbSNP Id:
rs374879755
gnomAD v4:
1-1353913-A-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1353913A>T , CM000663.2:g.1353913A>T | GRCh38 |
| NC_000001.10:g.1289293A>T , CM000663.1:g.1289293A>T | GRCh37 |
| NC_000001.9:g.1279156A>T | NCBI36 |
| NG_008048.1:g.200T>A | |
| NG_008048.2:g.200T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309212.11:c.1238T>A MANE Select | ENSP00000307887.6:p.Ile413Asn | |
| ENST00000309212.10:c.1238T>A | ENSP00000307887.6:p.Ile413Asn | |
| ENST00000342753.8:c.935T>A | ENSP00000344998.4:p.Ile312Asn | |
| ENST00000445648.5:c.1256T>A | ENSP00000399229.2:p.Ile419Asn | |
| ENST00000473097.5:n.254T>A | ||
| ENST00000474033.5:n.165T>A | ||
| ENST00000476718.1:n.745T>A | ||
| ENST00000477278.3:c.1211T>A | ENSP00000436135.1:p.Ile404Asn | |
| ENST00000478517.5:n.148T>A | ||
| NM_001282582.1:c.1238T>A | NP_001269511.1:p.Ile413Asn | |
| NM_001282583.1:c.1211T>A | NP_001269512.1:p.Ile404Asn | |
| NM_001282584.1:c.935T>A | NP_001269513.1:p.Ile312Asn | |
| NM_001282585.1:c.1256T>A | NP_001269514.1:p.Ile419Asn | |
| NM_032348.3:c.1238T>A | NP_115724.1:p.Ile413Asn | |
| XM_017001516.2:c.1238T>A | XP_016857005.1:p.Ile413Asn | |
| XM_017001517.1:c.935T>A | XP_016857006.1:p.Ile312Asn | |
| NM_001282583.2:c.1211T>A | NP_001269512.1:p.Ile404Asn | |
| NM_032348.4:c.1238T>A MANE Select | NP_115724.1:p.Ile413Asn | |
| NM_001282582.2:c.1238T>A | NP_001269511.1:p.Ile413Asn | |
| NM_001282584.2:c.935T>A | NP_001269513.1:p.Ile312Asn |