Linked Data
ClinVar Variation Id:
1262529
ClinVar RCV Id:
RCV001669762
dbSNP Id:
rs2242330
gnomAD v2:
4-68447249-A-G
gnomAD v3:
4-67581531-A-G
gnomAD v4:
4-67581531-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67581531A>G , CM000666.2:g.67581531A>G | GRCh38 |
| NC_000004.11:g.68447249A>G , CM000666.1:g.68447249A>G | GRCh37 |
| NC_000004.10:g.68129844A>G | NCBI36 |
| NG_047142.1:g.27804A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265404.7:c.530+60A>G MANE Select | ENSP00000265404.2:n.530+60A>G | |
| ENST00000265404.6:c.530+60A>G | ENSP00000265404.2:n.530+60A>G | |
| ENST00000396225.1:c.530+60A>G | ENSP00000379527.1:n.530+60A>G | |
| NM_012108.2:c.530+60A>G | NP_036240.1:n.530+60A>G | |
| XM_005265675.3:c.530+60A>G | XP_005265732.1:n.530+60A>G | |
| XM_006714175.2:c.530+60A>G | XP_006714238.1:n.530+60A>G | |
| XR_427541.2:n.588+60A>G | ||
| NM_001317769.1:c.530+60A>G | NP_001304698.1:n.530+60A>G | |
| NM_012108.3:c.530+60A>G | NP_036240.1:n.530+60A>G | |
| XM_017008018.2:c.530+60A>G | XP_016863507.1:n.530+60A>G | |
| NM_012108.4:c.530+60A>G MANE Select | NP_036240.1:n.530+60A>G | |
| NM_001317769.2:c.530+60A>G | NP_001304698.1:n.530+60A>G |