Linked Data
ClinVar Variation Id:
1287045
dbSNP Id:
rs2304052
ExAC:
5:151054227 T / C
gnomAD v2:
5-151054227-T-C
gnomAD v3:
5-151674666-T-C
gnomAD v4:
5-151674666-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151674666T>C , CM000667.2:g.151674666T>C | GRCh38 |
| NC_000005.9:g.151054227T>C , CM000667.1:g.151054227T>C | GRCh37 |
| NC_000005.8:g.151034420T>C | NCBI36 |
| NG_042174.1:g.17389A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539687.6:c.66A>G | ENSP00000444998.2:p.Glu22= | |
| ENST00000231061.9:c.66A>G MANE Select | ENSP00000231061.4:p.Glu22= | |
| ENST00000231061.8:c.66A>G | ENSP00000231061.4:p.Glu22= | |
| ENST00000521327.1:n.190A>G | ||
| ENST00000521569.1:c.-153-1450A>G | ENSP00000428119.1:n.-153-1450A>G | |
| ENST00000522348.1:c.66A>G | ENSP00000429152.1:p.Glu22= | |
| ENST00000538026.5:c.-65-2972A>G | ENSP00000440127.1:n.-65-2972A>G | |
| ENST00000539687.5:c.66A>G | ENSP00000444998.1:p.Glu22= | |
| NM_001309443.1:c.63A>G | NP_001296372.1:p.Glu21= | |
| NM_001309444.1:c.66A>G | NP_001296373.1:p.Glu22= | |
| NM_003118.3:c.66A>G | NP_003109.1:p.Glu22= | |
| NM_003118.4:c.66A>G MANE Select | NP_003109.1:p.Glu22= | |
| NM_001309443.2:c.63A>G | NP_001296372.1:p.Glu21= | |
| NM_001309444.2:c.66A>G | NP_001296373.1:p.Glu22= |