Linked Data
dbSNP Id:
rs9679162
gnomAD v2:
2-31247514-G-T
gnomAD v3:
2-31024648-G-T
gnomAD v4:
2-31024648-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31024648G>T , CM000664.2:g.31024648G>T | GRCh38 |
| NC_000002.11:g.31247514G>T , CM000664.1:g.31247514G>T | GRCh37 |
| NC_000002.10:g.31101018G>T | NCBI36 |
| NG_051040.1:g.119079C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349752.10:c.130-31641C>A MANE Select | ENSP00000288988.6:n.130-31641C>A | |
| ENST00000324589.9:c.315-58346C>A | ENSP00000314500.5:n.315-58346C>A | |
| ENST00000349752.9:c.130-31641C>A | ENSP00000288988.6:n.130-31641C>A | |
| ENST00000406653.5:c.70-31641C>A | ENSP00000385435.1:n.70-31641C>A | |
| ENST00000424136.5:c.182-31641C>A | ||
| ENST00000430167.1:c.130-31641C>A | ENSP00000406399.1:n.130-31641C>A | |
| ENST00000455477.5:c.199-31641C>A | ||
| ENST00000461193.5:n.165-31641C>A | ||
| ENST00000464038.5:n.389-31641C>A | ||
| ENST00000490212.5:n.365-31641C>A | ||
| ENST00000496397.5:n.315-31641C>A | ||
| ENST00000498206.5:n.359-31641C>A | ||
| NM_001253826.1:c.315-58346C>A | NP_001240755.1:n.315-58346C>A | |
| NM_001253827.1:c.70-31641C>A | NP_001240756.1:n.70-31641C>A | |
| NM_024572.3:c.130-31641C>A | NP_078848.2:n.130-31641C>A | |
| NR_045602.1:n.903-31641C>A | ||
| XM_011533104.1:c.448-31641C>A | XP_011531406.1:n.448-31641C>A | |
| XM_011533105.1:c.70-31641C>A | XP_011531407.1:n.70-31641C>A | |
| XM_011533106.1:c.43-31641C>A | XP_011531408.1:n.43-31641C>A | |
| NM_001329095.1:c.25-31641C>A | NP_001316024.1:n.25-31641C>A | |
| NM_001329096.1:c.70-31641C>A | NP_001316025.1:n.70-31641C>A | |
| NM_001329097.1:c.130-31641C>A | NP_001316026.1:n.130-31641C>A | |
| XM_017004906.1:c.163-31641C>A | XP_016860395.1:n.163-31641C>A | |
| XM_017004907.1:c.163-31641C>A | XP_016860396.1:n.163-31641C>A | |
| XR_001738941.1:n.237-31641C>A | ||
| XR_001738942.1:n.237-31641C>A | ||
| XR_001738943.1:n.246-31641C>A | ||
| NM_024572.4:c.130-31641C>A MANE Select | NP_078848.2:n.130-31641C>A | |
| NM_001253826.2:c.315-58346C>A | NP_001240755.1:n.315-58346C>A | |
| NM_001329095.2:c.25-31641C>A | NP_001316024.1:n.25-31641C>A | |
| NM_001329096.2:c.70-31641C>A | NP_001316025.1:n.70-31641C>A | |
| NM_001329097.2:c.130-31641C>A | NP_001316026.1:n.130-31641C>A | |
| NM_001253827.2:c.70-31641C>A | NP_001240756.1:n.70-31641C>A |