Linked Data
ClinVar Variation Id:
514876
dbSNP Id:
rs137999403
ExAC:
1:103364554 T / C
gnomAD v2:
1-103364554-T-C
gnomAD v3:
1-102898998-T-C
gnomAD v4:
1-102898998-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102898998T>C , CM000663.2:g.102898998T>C | GRCh38 |
| NC_000001.10:g.103364554T>C , CM000663.1:g.103364554T>C | GRCh37 |
| NC_000001.9:g.103137142T>C | NCBI36 |
| NG_008033.1:g.214499A>G | |
| NG_008033.2:g.214499A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.4087-4A>G MANE Select | ENSP00000359114.3:n.4087-4A>G | |
| ENST00000353414.8:c.3970-4A>G | ENSP00000302551.6:n.3970-4A>G | |
| ENST00000358392.6:c.4123-4A>G | ENSP00000351163.2:n.4123-4A>G | |
| ENST00000370096.7:c.4087-4A>G | ENSP00000359114.3:n.4087-4A>G | |
| ENST00000512756.5:c.3739-4A>G | ENSP00000426533.1:n.3739-4A>G | |
| ENST00000635193.1:c.3421-4A>G | ||
| NM_001190709.1:c.3970-4A>G | NP_001177638.1:n.3970-4A>G | |
| NM_001854.3:c.4087-4A>G | NP_001845.3:n.4087-4A>G | |
| NM_080629.2:c.4123-4A>G | NP_542196.2:n.4123-4A>G | |
| NM_080630.3:c.3739-4A>G | NP_542197.3:n.3739-4A>G | |
| XM_011540719.1:c.4087-4A>G | XP_011539021.1:n.4087-4A>G | |
| XM_011540720.1:c.2320-4A>G | XP_011539022.1:n.2320-4A>G | |
| XM_011540721.1:c.1675-4A>G | XP_011539023.1:n.1675-4A>G | |
| NR_134980.1:n.4421-4A>G | ||
| XM_017000334.1:c.4240-4A>G | XP_016855823.1:n.4240-4A>G | |
| XM_017000335.1:c.4234-4A>G | XP_016855824.1:n.4234-4A>G | |
| XM_017000336.1:c.4240-4A>G | XP_016855825.1:n.4240-4A>G | |
| XM_017000337.1:c.2638-4A>G | XP_016855826.1:n.2638-4A>G | |
| NM_001854.4:c.4087-4A>G MANE Select | NP_001845.3:n.4087-4A>G | |
| NM_080630.4:c.3739-4A>G | NP_542197.3:n.3739-4A>G | |
| NR_134980.2:n.4447-4A>G | ||
| NM_001190709.2:c.3970-4A>G | NP_001177638.1:n.3970-4A>G | |
| NM_080629.3:c.4123-4A>G | NP_542196.2:n.4123-4A>G |