Linked Data
ClinVar Variation Id:
294669
dbSNP Id:
rs375141011
ExAC:
1:197390115 T / A
gnomAD v2:
1-197390115-T-A
gnomAD v3:
1-197420985-T-A
gnomAD v4:
1-197420985-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197420985T>A , CM000663.2:g.197420985T>A | GRCh38 |
| NC_000001.10:g.197390115T>A , CM000663.1:g.197390115T>A | GRCh37 |
| NC_000001.9:g.195656738T>A | NCBI36 |
| NG_008483.1:g.157708T>A | |
| NG_008483.2:g.224524T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1172-15T>A MANE Select | ENSP00000356370.3:n.1172-15T>A | |
| ENST00000638467.1:c.1172-15T>A | ENSP00000491102.1:n.1172-15T>A | |
| ENST00000681519.1:c.53-15T>A | ENSP00000505267.1:n.53-15T>A | |
| ENST00000367397.1:c.-686-15T>A | ENSP00000356367.1:n.-686-15T>A | |
| ENST00000367399.6:c.836-15T>A | ENSP00000356369.2:n.836-15T>A | |
| ENST00000367400.7:c.1172-15T>A | ENSP00000356370.3:n.1172-15T>A | |
| ENST00000476483.1:n.132-15T>A | ||
| ENST00000484075.5:c.1172-15T>A | ENSP00000433932.1:n.1172-15T>A | |
| ENST00000535699.5:c.965-15T>A | ENSP00000438786.1:n.965-15T>A | |
| ENST00000538660.5:c.1172-15T>A | ENSP00000438091.1:n.1172-15T>A | |
| NM_001193640.1:c.836-15T>A | NP_001180569.1:n.836-15T>A | |
| NM_001257965.1:c.965-15T>A | NP_001244894.1:n.965-15T>A | |
| NM_001257966.1:c.1172-15T>A | NP_001244895.1:n.1172-15T>A | |
| NM_201253.2:c.1172-15T>A | NP_957705.1:n.1172-15T>A | |
| NR_047563.1:n.1381-15T>A | ||
| NR_047564.1:n.1381-15T>A | ||
| XM_011509365.1:c.1172-15T>A | XP_011507667.1:n.1172-15T>A | |
| XM_011509366.1:c.1172-15T>A | XP_011507668.1:n.1172-15T>A | |
| XM_011509367.1:c.1172-15T>A | XP_011507669.1:n.1172-15T>A | |
| XM_011509368.1:c.590-15T>A | XP_011507670.1:n.590-15T>A | |
| XM_011509369.1:c.-386-15T>A | XP_011507671.1:n.-386-15T>A | |
| XM_011509365.2:c.1172-15T>A | XP_011507667.1:n.1172-15T>A | |
| XM_011509369.2:c.-386-15T>A | XP_011507671.1:n.-386-15T>A | |
| XM_017000851.1:c.329-15T>A | XP_016856340.1:n.329-15T>A | |
| XM_017000852.1:c.1172-15T>A | XP_016856341.1:n.1172-15T>A | |
| NM_201253.3:c.1172-15T>A MANE Select | NP_957705.1:n.1172-15T>A | |
| NM_001193640.2:c.836-15T>A | NP_001180569.1:n.836-15T>A | |
| NM_001257965.2:c.965-15T>A | NP_001244894.1:n.965-15T>A | |
| NR_047563.2:n.1333-15T>A | ||
| NR_047564.2:n.1333-15T>A | ||
| NM_001257966.2:c.1172-15T>A | NP_001244895.1:n.1172-15T>A |