Linked Data
ClinVar Variation Id:
294670
dbSNP Id:
rs146175509
ExAC:
1:197390118 A / G
gnomAD v2:
1-197390118-A-G
gnomAD v3:
1-197420988-A-G
gnomAD v4:
1-197420988-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197420988A>G , CM000663.2:g.197420988A>G | GRCh38 |
| NC_000001.10:g.197390118A>G , CM000663.1:g.197390118A>G | GRCh37 |
| NC_000001.9:g.195656741A>G | NCBI36 |
| NG_008483.1:g.157711A>G | |
| NG_008483.2:g.224527A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1172-12A>G MANE Select | ENSP00000356370.3:n.1172-12A>G | |
| ENST00000638467.1:c.1172-12A>G | ENSP00000491102.1:n.1172-12A>G | |
| ENST00000681519.1:c.53-12A>G | ENSP00000505267.1:n.53-12A>G | |
| ENST00000367397.1:c.-686-12A>G | ENSP00000356367.1:n.-686-12A>G | |
| ENST00000367399.6:c.836-12A>G | ENSP00000356369.2:n.836-12A>G | |
| ENST00000367400.7:c.1172-12A>G | ENSP00000356370.3:n.1172-12A>G | |
| ENST00000476483.1:n.132-12A>G | ||
| ENST00000484075.5:c.1172-12A>G | ENSP00000433932.1:n.1172-12A>G | |
| ENST00000535699.5:c.965-12A>G | ENSP00000438786.1:n.965-12A>G | |
| ENST00000538660.5:c.1172-12A>G | ENSP00000438091.1:n.1172-12A>G | |
| NM_001193640.1:c.836-12A>G | NP_001180569.1:n.836-12A>G | |
| NM_001257965.1:c.965-12A>G | NP_001244894.1:n.965-12A>G | |
| NM_001257966.1:c.1172-12A>G | NP_001244895.1:n.1172-12A>G | |
| NM_201253.2:c.1172-12A>G | NP_957705.1:n.1172-12A>G | |
| NR_047563.1:n.1381-12A>G | ||
| NR_047564.1:n.1381-12A>G | ||
| XM_011509365.1:c.1172-12A>G | XP_011507667.1:n.1172-12A>G | |
| XM_011509366.1:c.1172-12A>G | XP_011507668.1:n.1172-12A>G | |
| XM_011509367.1:c.1172-12A>G | XP_011507669.1:n.1172-12A>G | |
| XM_011509368.1:c.590-12A>G | XP_011507670.1:n.590-12A>G | |
| XM_011509369.1:c.-386-12A>G | XP_011507671.1:n.-386-12A>G | |
| XM_011509365.2:c.1172-12A>G | XP_011507667.1:n.1172-12A>G | |
| XM_011509369.2:c.-386-12A>G | XP_011507671.1:n.-386-12A>G | |
| XM_017000851.1:c.329-12A>G | XP_016856340.1:n.329-12A>G | |
| XM_017000852.1:c.1172-12A>G | XP_016856341.1:n.1172-12A>G | |
| NM_201253.3:c.1172-12A>G MANE Select | NP_957705.1:n.1172-12A>G | |
| NM_001193640.2:c.836-12A>G | NP_001180569.1:n.836-12A>G | |
| NM_001257965.2:c.965-12A>G | NP_001244894.1:n.965-12A>G | |
| NR_047563.2:n.1333-12A>G | ||
| NR_047564.2:n.1333-12A>G | ||
| NM_001257966.2:c.1172-12A>G | NP_001244895.1:n.1172-12A>G |