Linked Data
ClinVar Variation Id:
460360
dbSNP Id:
rs201154463
gnomAD v2:
1-241675308-T-C
gnomAD v3:
1-241512008-T-C
gnomAD v4:
1-241512008-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512008T>C , CM000663.2:g.241512008T>C | GRCh38 |
| NC_000001.10:g.241675308T>C , CM000663.1:g.241675308T>C | GRCh37 |
| NC_000001.9:g.239741931T>C | NCBI36 |
| NG_012338.1:g.12747A>G , LRG_504:g.12747A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1017A>G | ||
| ENST00000682162.1:c.543A>G | ENSP00000508203.1:n.543A>G | |
| ENST00000682567.1:n.591A>G | ||
| ENST00000683521.1:c.514A>G | ENSP00000506864.1:p.Lys172Glu | |
| ENST00000684483.1:c.514A>G | ENSP00000507894.1:p.Lys172Glu | |
| ENST00000366560.4:c.514A>G MANE Select | ENSP00000355518.4:p.Lys172Glu | |
| ENST00000366560.3:c.514A>G | ENSP00000355518.3:p.Lys172Glu | |
| ENST00000497042.1:n.210A>G | ||
| NM_000143.3:c.514A>G , LRG_504t1:c.514A>G | NP_000134.2:p.Lys172Glu | |
| XM_011544132.1:c.286A>G | XP_011542434.1:p.Lys96Glu | |
| XM_011544132.2:c.286A>G | XP_011542434.1:p.Lys96Glu | |
| NM_000143.4:c.514A>G MANE Select | NP_000134.2:p.Lys172Glu |