Linked Data
ClinVar Variation Id:
1090457
ClinVar RCV Id:
RCV001409637
dbSNP Id:
rs562221537
ExAC:
4:100504650 G / A
gnomAD v2:
4-100504650-G-A
gnomAD v3:
4-99583493-G-A
gnomAD v4:
4-99583493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583493G>A , CM000666.2:g.99583493G>A | GRCh38 |
| NC_000004.11:g.100504650G>A , CM000666.1:g.100504650G>A | GRCh37 |
| NC_000004.10:g.100723673G>A | NCBI36 |
| NG_011469.1:g.24411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.369G>A MANE Select | ENSP00000265517.5:p.Thr123= | |
| ENST00000457717.6:c.369G>A | ENSP00000400821.1:p.Thr123= | |
| ENST00000511045.6:c.120G>A | ENSP00000427679.2:p.Thr40= | |
| ENST00000265517.9:c.369G>A | ENSP00000265517.5:p.Thr123= | |
| ENST00000422897.6:c.369G>A | ENSP00000407350.2:p.Thr123= | |
| ENST00000457717.5:c.369G>A | ENSP00000400821.1:p.Thr123= | |
| ENST00000506883.5:c.399G>A | ENSP00000426755.1:p.Thr133= | |
| ENST00000511045.5:c.450G>A | ENSP00000427679.1:p.Thr150= | |
| ENST00000619629.1:c.369G>A | ENSP00000482850.1:p.Thr123= | |
| NM_000253.3:c.369G>A | NP_000244.2:p.Thr123= | |
| NM_001300785.1:c.450G>A | NP_001287714.1:p.Thr150= | |
| NM_000253.4:c.369G>A | NP_000244.2:p.Thr123= | |
| NM_001300785.2:c.120G>A | NP_001287714.2:p.Thr40= | |
| NM_001386140.1:c.369G>A MANE Select | NP_001373069.1:p.Thr123= |