Linked Data
ClinVar Variation Id:
1067
ClinVar RCV Id:
RCV000001122
dbSNP Id:
rs121918213
gnomAD v3:
1-173857644-T-A
gnomAD v4:
1-173857644-T-A
PubMed:
PMID:17384640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173857644T>A , CM000663.2:g.173857644T>A | GRCh38 |
| NC_000001.10:g.173826782T>A , CM000663.1:g.173826782T>A | GRCh37 |
| NC_000001.9:g.172093405T>A | NCBI36 |
| NG_016138.1:g.37986T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471476.2:c.*1456T>A | ENSP00000497663.1:n.*1456T>A | |
| ENST00000647645.1:c.1814T>A | ENSP00000497450.1:p.Leu605Gln | |
| ENST00000647730.1:c.*1567T>A | ENSP00000497781.1:n.*1567T>A | |
| ENST00000647788.1:c.*1021T>A | ENSP00000497769.1:n.*1021T>A | |
| ENST00000648271.1:c.*2343T>A | ENSP00000497795.1:n.*2343T>A | |
| ENST00000648807.1:c.1724T>A | ENSP00000497472.1:p.Leu575Gln | |
| ENST00000648960.1:c.1394T>A | ENSP00000497091.1:p.Leu465Gln | |
| ENST00000649067.1:c.*880T>A | ENSP00000497052.1:n.*880T>A | |
| ENST00000649689.2:c.1877T>A MANE Select | ENSP00000497569.1:p.Leu626Gln | |
| ENST00000361951.4:c.1877T>A | ENSP00000355086.4:p.Leu626Gln | |
| ENST00000471476.1:n.699T>A | ||
| NM_018122.4:c.1877T>A | NP_060592.2:p.Leu626Gln | |
| XM_006711427.2:c.1724T>A | XP_006711490.1:p.Leu575Gln | |
| NM_001365212.1:c.1724T>A | NP_001352141.1:p.Leu575Gln | |
| NM_018122.5:c.1877T>A MANE Select | NP_060592.2:p.Leu626Gln |