Linked Data
dbSNP Id:
rs1375332049
gnomAD v2:
2-31297442-G-C
gnomAD v3:
2-31074576-G-C
gnomAD v4:
2-31074576-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31074576G>C , CM000664.2:g.31074576G>C | GRCh38 |
| NC_000002.11:g.31297442G>C , CM000664.1:g.31297442G>C | GRCh37 |
| NC_000002.10:g.31150946G>C | NCBI36 |
| NG_051040.1:g.69151C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349752.10:c.129+63382C>G MANE Select | ENSP00000288988.6:n.129+63382C>G | |
| ENST00000324589.9:c.314+40167C>G | ENSP00000314500.5:n.314+40167C>G | |
| ENST00000349752.9:c.129+63382C>G | ENSP00000288988.6:n.129+63382C>G | |
| ENST00000406653.5:c.69+40167C>G | ENSP00000385435.1:n.69+40167C>G | |
| ENST00000424136.5:c.181+58054C>G | ||
| ENST00000430167.1:c.129+63382C>G | ENSP00000406399.1:n.129+63382C>G | |
| ENST00000455477.5:c.198+50578C>G | ||
| ENST00000461193.5:n.164+50578C>G | ||
| ENST00000464038.5:n.388+72346C>G | ||
| ENST00000485468.1:n.290+4358C>G | ||
| ENST00000490212.5:n.364+54701C>G | ||
| ENST00000496397.5:n.202-1401C>G | ||
| ENST00000498206.5:n.358+40167C>G | ||
| NM_001253826.1:c.314+40167C>G | NP_001240755.1:n.314+40167C>G | |
| NM_001253827.1:c.69+40167C>G | NP_001240756.1:n.69+40167C>G | |
| NM_024572.3:c.129+63382C>G | NP_078848.2:n.129+63382C>G | |
| NR_045602.1:n.902+4358C>G | ||
| XM_011533104.1:c.447+4358C>G | XP_011531406.1:n.447+4358C>G | |
| XM_011533105.1:c.69+40167C>G | XP_011531407.1:n.69+40167C>G | |
| XM_011533106.1:c.42+72346C>G | XP_011531408.1:n.42+72346C>G | |
| NM_001329095.1:c.24+4358C>G | NP_001316024.1:n.24+4358C>G | |
| NM_001329096.1:c.69+40167C>G | NP_001316025.1:n.69+40167C>G | |
| NM_001329097.1:c.129+63382C>G | NP_001316026.1:n.129+63382C>G | |
| XM_017004906.1:c.162+4358C>G | XP_016860395.1:n.162+4358C>G | |
| XM_017004907.1:c.162+4358C>G | XP_016860396.1:n.162+4358C>G | |
| XR_001738941.1:n.236+4358C>G | ||
| XR_001738942.1:n.236+4358C>G | ||
| XR_001738943.1:n.245+4358C>G | ||
| NM_024572.4:c.129+63382C>G MANE Select | NP_078848.2:n.129+63382C>G | |
| NM_001253826.2:c.314+40167C>G | NP_001240755.1:n.314+40167C>G | |
| NM_001329095.2:c.24+4358C>G | NP_001316024.1:n.24+4358C>G | |
| NM_001329096.2:c.69+40167C>G | NP_001316025.1:n.69+40167C>G | |
| NM_001329097.2:c.129+63382C>G | NP_001316026.1:n.129+63382C>G | |
| NM_001253827.2:c.69+40167C>G | NP_001240756.1:n.69+40167C>G |