Linked Data
ClinVar Variation Id:
349333
dbSNP Id:
rs71526455
gnomAD v2:
4-6304249-A-G
gnomAD v3:
4-6302522-A-G
gnomAD v4:
4-6302522-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302522A>G , CM000666.2:g.6302522A>G | GRCh38 |
| NC_000004.11:g.6304249A>G , CM000666.1:g.6304249A>G | GRCh37 |
| NC_000004.10:g.6355150A>G | NCBI36 |
| NG_011700.1:g.37673A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.*54A>G | ENSP00000507852.1:n.*54A>G | |
| ENST00000683395.1:c.2704A>G | ||
| ENST00000684087.1:c.*54A>G | ENSP00000506978.1:n.*54A>G | |
| ENST00000506362.2:c.*54A>G | ENSP00000424103.2:n.*54A>G | |
| ENST00000673991.1:c.*54A>G | ENSP00000501033.1:n.*54A>G | |
| ENST00000226760.5:c.*54A>G MANE Select | ENSP00000226760.1:n.*54A>G | |
| ENST00000503569.5:c.*54A>G | ENSP00000423337.1:n.*54A>G | |
| ENST00000507765.1:n.2912A>G | ||
| NM_001145853.1:c.*54A>G | NP_001139325.1:n.*54A>G | |
| NM_006005.3:c.*54A>G MANE Select | NP_005996.2:n.*54A>G | |
| XM_017008586.1:c.*54A>G | XP_016864075.1:n.*54A>G |