Linked Data
ClinVar Variation Id:
2114551
ClinVar RCV Id:
RCV003042842
dbSNP Id:
rs376888773
ExAC:
1:103412529 G / T
gnomAD v2:
1-103412529-G-T
gnomAD v4:
1-102946973-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102946973G>T , CM000663.2:g.102946973G>T | GRCh38 |
| NC_000001.10:g.103412529G>T , CM000663.1:g.103412529G>T | GRCh37 |
| NC_000001.9:g.103185117G>T | NCBI36 |
| NG_008033.1:g.166524C>A | |
| NG_008033.2:g.166524C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3169-17C>A MANE Select | ENSP00000359114.3:n.3169-17C>A | |
| ENST00000353414.8:c.3052-17C>A | ENSP00000302551.6:n.3052-17C>A | |
| ENST00000358392.6:c.3205-17C>A | ENSP00000351163.2:n.3205-17C>A | |
| ENST00000370096.7:c.3169-17C>A | ENSP00000359114.3:n.3169-17C>A | |
| ENST00000512756.5:c.2821-17C>A | ENSP00000426533.1:n.2821-17C>A | |
| ENST00000635193.1:c.2503-17C>A | ||
| NM_001190709.1:c.3052-17C>A | NP_001177638.1:n.3052-17C>A | |
| NM_001854.3:c.3169-17C>A | NP_001845.3:n.3169-17C>A | |
| NM_080629.2:c.3205-17C>A | NP_542196.2:n.3205-17C>A | |
| NM_080630.3:c.2821-17C>A | NP_542197.3:n.2821-17C>A | |
| XM_011540719.1:c.3169-17C>A | XP_011539021.1:n.3169-17C>A | |
| XM_011540720.1:c.1402-17C>A | XP_011539022.1:n.1402-17C>A | |
| XM_011540721.1:c.757-17C>A | XP_011539023.1:n.757-17C>A | |
| NR_134980.1:n.3503-17C>A | ||
| XM_017000334.1:c.3322-17C>A | XP_016855823.1:n.3322-17C>A | |
| XM_017000335.1:c.3316-17C>A | XP_016855824.1:n.3316-17C>A | |
| XM_017000336.1:c.3322-17C>A | XP_016855825.1:n.3322-17C>A | |
| XM_017000337.1:c.1720-17C>A | XP_016855826.1:n.1720-17C>A | |
| NM_001854.4:c.3169-17C>A MANE Select | NP_001845.3:n.3169-17C>A | |
| NM_080630.4:c.2821-17C>A | NP_542197.3:n.2821-17C>A | |
| NR_134980.2:n.3529-17C>A | ||
| NM_001190709.2:c.3052-17C>A | NP_001177638.1:n.3052-17C>A | |
| NM_080629.3:c.3205-17C>A | NP_542196.2:n.3205-17C>A |