Linked Data
ClinVar Variation Id:
349351
dbSNP Id:
rs573433508
gnomAD v2:
4-6304715-G-A
gnomAD v3:
4-6302988-G-A
gnomAD v4:
4-6302988-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302988G>A , CM000666.2:g.6302988G>A | GRCh38 |
| NC_000004.11:g.6304715G>A , CM000666.1:g.6304715G>A | GRCh37 |
| NC_000004.10:g.6355616G>A | NCBI36 |
| NG_011700.1:g.38139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.*520G>A | ENSP00000507852.1:n.*520G>A | |
| ENST00000683395.1:c.3170G>A | ||
| ENST00000684087.1:c.*520G>A | ENSP00000506978.1:n.*520G>A | |
| ENST00000673991.1:c.*520G>A | ENSP00000501033.1:n.*520G>A | |
| ENST00000226760.5:c.*520G>A MANE Select | ENSP00000226760.1:n.*520G>A | |
| ENST00000507765.1:n.3378G>A | ||
| NM_001145853.1:c.*520G>A | NP_001139325.1:n.*520G>A | |
| NM_006005.3:c.*520G>A MANE Select | NP_005996.2:n.*520G>A | |
| XM_017008586.1:c.*520G>A | XP_016864075.1:n.*520G>A | |
| XR_001741566.2:n.1957C>T |