Linked Data
ClinVar Variation Id:
2972762
ClinVar RCV Id:
RCV003837872
dbSNP Id:
rs1452021374
gnomAD v2:
1-103412519-T-C
gnomAD v3:
1-102946963-T-C
gnomAD v4:
1-102946963-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102946963T>C , CM000663.2:g.102946963T>C | GRCh38 |
| NC_000001.10:g.103412519T>C , CM000663.1:g.103412519T>C | GRCh37 |
| NC_000001.9:g.103185107T>C | NCBI36 |
| NG_008033.1:g.166534A>G | |
| NG_008033.2:g.166534A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3169-7A>G MANE Select | ENSP00000359114.3:n.3169-7A>G | |
| ENST00000353414.8:c.3052-7A>G | ENSP00000302551.6:n.3052-7A>G | |
| ENST00000358392.6:c.3205-7A>G | ENSP00000351163.2:n.3205-7A>G | |
| ENST00000370096.7:c.3169-7A>G | ENSP00000359114.3:n.3169-7A>G | |
| ENST00000512756.5:c.2821-7A>G | ENSP00000426533.1:n.2821-7A>G | |
| ENST00000635193.1:c.2503-7A>G | ||
| NM_001190709.1:c.3052-7A>G | NP_001177638.1:n.3052-7A>G | |
| NM_001854.3:c.3169-7A>G | NP_001845.3:n.3169-7A>G | |
| NM_080629.2:c.3205-7A>G | NP_542196.2:n.3205-7A>G | |
| NM_080630.3:c.2821-7A>G | NP_542197.3:n.2821-7A>G | |
| XM_011540719.1:c.3169-7A>G | XP_011539021.1:n.3169-7A>G | |
| XM_011540720.1:c.1402-7A>G | XP_011539022.1:n.1402-7A>G | |
| XM_011540721.1:c.757-7A>G | XP_011539023.1:n.757-7A>G | |
| NR_134980.1:n.3503-7A>G | ||
| XM_017000334.1:c.3322-7A>G | XP_016855823.1:n.3322-7A>G | |
| XM_017000335.1:c.3316-7A>G | XP_016855824.1:n.3316-7A>G | |
| XM_017000336.1:c.3322-7A>G | XP_016855825.1:n.3322-7A>G | |
| XM_017000337.1:c.1720-7A>G | XP_016855826.1:n.1720-7A>G | |
| NM_001854.4:c.3169-7A>G MANE Select | NP_001845.3:n.3169-7A>G | |
| NM_080630.4:c.2821-7A>G | NP_542197.3:n.2821-7A>G | |
| NR_134980.2:n.3529-7A>G | ||
| NM_001190709.2:c.3052-7A>G | NP_001177638.1:n.3052-7A>G | |
| NM_080629.3:c.3205-7A>G | NP_542196.2:n.3205-7A>G |