Linked Data
dbSNP Id:
rs75263140
gnomAD v2:
10-12702569-A-G
gnomAD v3:
10-12660570-A-G
gnomAD v4:
10-12660570-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12660570A>G , CM000672.2:g.12660570A>G | GRCh38 |
| NC_000010.10:g.12702569A>G , CM000672.1:g.12702569A>G | GRCh37 |
| NC_000010.9:g.12742575A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619168.5:c.225-6166A>G MANE Select | ENSP00000478874.1:n.225-6166A>G | |
| ENST00000378845.5:c.225-6166A>G | ENSP00000368122.1:n.225-6166A>G | |
| ENST00000487696.1:n.260-6166A>G | ||
| ENST00000619168.4:c.225-6166A>G | ENSP00000478874.1:n.225-6166A>G | |
| NM_020397.3:c.225-6166A>G | NP_065130.1:n.225-6166A>G | |
| NM_153498.3:c.225-6166A>G | NP_705718.1:n.225-6166A>G | |
| XM_006717481.2:c.168-6166A>G | XP_006717544.1:n.168-6166A>G | |
| XM_006717482.2:c.225-6166A>G | XP_006717545.1:n.225-6166A>G | |
| XM_006717483.2:c.225-6166A>G | XP_006717546.1:n.225-6166A>G | |
| XM_011519591.1:c.186-6166A>G | XP_011517893.1:n.186-6166A>G | |
| XM_011519595.1:c.-67-6166A>G | XP_011517897.1:n.-67-6166A>G | |
| NM_001351032.1:c.-67-6166A>G | NP_001337961.1:n.-67-6166A>G | |
| XM_006717482.3:c.225-6166A>G | XP_006717545.1:n.225-6166A>G | |
| XM_006717483.4:c.225-6166A>G | XP_006717546.1:n.225-6166A>G | |
| XM_011519591.3:c.186-6166A>G | XP_011517893.1:n.186-6166A>G | |
| XM_011519595.3:c.-67-6166A>G | XP_011517897.1:n.-67-6166A>G | |
| XM_017016438.2:c.-67-6166A>G | XP_016871927.1:n.-67-6166A>G | |
| XM_024448087.1:c.-67-6166A>G | XP_024303855.1:n.-67-6166A>G | |
| NM_001351032.2:c.-67-6166A>G | NP_001337961.1:n.-67-6166A>G | |
| NM_020397.4:c.225-6166A>G | NP_065130.1:n.225-6166A>G | |
| NM_153498.4:c.225-6166A>G MANE Select | NP_705718.1:n.225-6166A>G |