Linked Data
dbSNP Id:
rs1000916
gnomAD v2:
2-31314555-T-C
gnomAD v3:
2-31091689-T-C
gnomAD v4:
2-31091689-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31091689T>C , CM000664.2:g.31091689T>C | GRCh38 |
| NC_000002.11:g.31314555T>C , CM000664.1:g.31314555T>C | GRCh37 |
| NC_000002.10:g.31168059T>C | NCBI36 |
| NG_051040.1:g.52038A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349752.10:c.129+46269A>G MANE Select | ENSP00000288988.6:n.129+46269A>G | |
| ENST00000324589.9:c.314+23054A>G | ENSP00000314500.5:n.314+23054A>G | |
| ENST00000349752.9:c.129+46269A>G | ENSP00000288988.6:n.129+46269A>G | |
| ENST00000406653.5:c.69+23054A>G | ENSP00000385435.1:n.69+23054A>G | |
| ENST00000424136.5:c.181+40941A>G | ||
| ENST00000430167.1:c.129+46269A>G | ENSP00000406399.1:n.129+46269A>G | |
| ENST00000455477.5:c.198+33465A>G | ||
| ENST00000461193.5:n.164+33465A>G | ||
| ENST00000464038.5:n.388+55233A>G | ||
| ENST00000485468.1:n.158-12623A>G | ||
| ENST00000490212.5:n.364+37588A>G | ||
| ENST00000496397.5:n.202-18514A>G | ||
| ENST00000498206.5:n.358+23054A>G | ||
| NM_001253826.1:c.314+23054A>G | NP_001240755.1:n.314+23054A>G | |
| NM_001253827.1:c.69+23054A>G | NP_001240756.1:n.69+23054A>G | |
| NM_024572.3:c.129+46269A>G | NP_078848.2:n.129+46269A>G | |
| NR_045602.1:n.770-12623A>G | ||
| XM_011533104.1:c.315-12623A>G | XP_011531406.1:n.315-12623A>G | |
| XM_011533105.1:c.69+23054A>G | XP_011531407.1:n.69+23054A>G | |
| XM_011533106.1:c.42+55233A>G | XP_011531408.1:n.42+55233A>G | |
| NM_001329095.1:c.-109-12623A>G | NP_001316024.1:n.-109-12623A>G | |
| NM_001329096.1:c.69+23054A>G | NP_001316025.1:n.69+23054A>G | |
| NM_001329097.1:c.129+46269A>G | NP_001316026.1:n.129+46269A>G | |
| NM_024572.4:c.129+46269A>G MANE Select | NP_078848.2:n.129+46269A>G | |
| NM_001253826.2:c.314+23054A>G | NP_001240755.1:n.314+23054A>G | |
| NM_001329095.2:c.-109-12623A>G | NP_001316024.1:n.-109-12623A>G | |
| NM_001329096.2:c.69+23054A>G | NP_001316025.1:n.69+23054A>G | |
| NM_001329097.2:c.129+46269A>G | NP_001316026.1:n.129+46269A>G | |
| NM_001253827.2:c.69+23054A>G | NP_001240756.1:n.69+23054A>G |