Linked Data
ClinVar Variation Id:
1078282
ClinVar RCV Id:
RCV001393184
dbSNP Id:
rs199620178
ExAC:
4:6293703 G / A
gnomAD v2:
4-6293703-G-A
gnomAD v3:
4-6291976-G-A
gnomAD v4:
4-6291976-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291976G>A , CM000666.2:g.6291976G>A | GRCh38 |
| NC_000004.11:g.6293703G>A , CM000666.1:g.6293703G>A | GRCh37 |
| NC_000004.10:g.6344604G>A | NCBI36 |
| NG_011700.1:g.27127G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.691G>A | ENSP00000507852.1:p.Glu231Lys | |
| ENST00000683395.1:c.668G>A | ||
| ENST00000684087.1:c.691G>A | ENSP00000506978.1:p.Glu231Lys | |
| ENST00000506362.2:c.442G>A | ENSP00000424103.2:p.Glu148Lys | |
| ENST00000673642.1:c.490G>A | ENSP00000501242.1:p.Glu164Lys | |
| ENST00000673991.1:c.691G>A | ENSP00000501033.1:p.Glu231Lys | |
| ENST00000226760.5:c.691G>A MANE Select | ENSP00000226760.1:p.Glu231Lys | |
| ENST00000503569.5:c.691G>A | ENSP00000423337.1:p.Glu231Lys | |
| ENST00000506362.1:c.288G>A | ||
| ENST00000507765.1:n.876G>A | ||
| NM_001145853.1:c.691G>A | NP_001139325.1:p.Glu231Lys | |
| NM_006005.3:c.691G>A MANE Select | NP_005996.2:p.Glu231Lys | |
| XM_017008586.1:c.700G>A | XP_016864075.1:p.Glu234Lys |