Linked Data
ClinVar Variation Id:
254907
dbSNP Id:
rs17615059
ExAC:
1:235866014 T / C
gnomAD v2:
1-235866014-T-C
gnomAD v3:
1-235702714-T-C
gnomAD v4:
1-235702714-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235702714T>C , CM000663.2:g.235702714T>C | GRCh38 |
| NC_000001.10:g.235866014T>C , CM000663.1:g.235866014T>C | GRCh37 |
| NC_000001.9:g.233932637T>C | NCBI36 |
| NG_007397.1:g.185927A>G , LRG_143:g.185927A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.1784+33A>G | ||
| ENST00000697178.1:c.*6069+33A>G | ENSP00000513163.1:n.*6069+33A>G | |
| ENST00000697179.1:n.3083+33A>G | ||
| ENST00000697235.1:c.924+33A>G | ENSP00000513202.1:n.924+33A>G | |
| ENST00000697236.1:c.3838+33A>G | ENSP00000513203.1:n.3838+33A>G | |
| ENST00000697237.1:c.1085+33A>G | ||
| ENST00000697240.1:c.2508+33A>G | ENSP00000513205.1:n.2508+33A>G | |
| ENST00000389793.7:c.10374+33A>G MANE Select | ENSP00000374443.2:n.10374+33A>G | |
| ENST00000389793.6:c.10374+33A>G | ENSP00000374443.2:n.10374+33A>G | |
| ENST00000389794.7:c.*5798+33A>G | ENSP00000374444.4:n.*5798+33A>G | |
| ENST00000473037.5:n.5364+33A>G | ||
| NM_000081.3:c.10374+33A>G , LRG_143t1:c.10374+33A>G | NP_000072.2:n.10374+33A>G | |
| NM_001301365.1:c.10374+33A>G , LRG_143t2:c.10374+33A>G | NP_001288294.1:n.10374+33A>G | |
| XM_011544031.1:c.10536+33A>G | XP_011542333.1:n.10536+33A>G | |
| XM_011544032.1:c.10536+33A>G | XP_011542334.1:n.10536+33A>G | |
| XM_011544033.1:c.10536+33A>G | XP_011542335.1:n.10536+33A>G | |
| XM_011544034.1:c.10398+33A>G | XP_011542336.1:n.10398+33A>G | |
| XM_011544036.1:c.8199+33A>G | XP_011542338.1:n.8199+33A>G | |
| XM_011544033.2:c.10536+33A>G | XP_011542335.1:n.10536+33A>G | |
| XM_011544036.2:c.8199+33A>G | XP_011542338.1:n.8199+33A>G | |
| XM_017000150.1:c.10306-5442A>G | XP_016855639.1:n.10306-5442A>G | |
| NM_000081.4:c.10374+33A>G MANE Select | NP_000072.2:n.10374+33A>G |