Linked Data
ClinVar Variation Id:
2938686
ClinVar RCV Id:
RCV003799460
dbSNP Id:
rs777899811
ExAC:
2:21238229 A / G
gnomAD v2:
2-21238229-A-G
gnomAD v4:
2-21015357-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21015357A>G , CM000664.2:g.21015357A>G | GRCh38 |
| NC_000002.11:g.21238229A>G , CM000664.1:g.21238229A>G | GRCh37 |
| NC_000002.10:g.21091734A>G | NCBI36 |
| NG_011793.1:g.33717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2814+13T>C | ENSP00000501110.2:n.*2814+13T>C | |
| ENST00000673882.2:c.*2603+13T>C | ENSP00000501253.2:n.*2603+13T>C | |
| ENST00000673739.1:c.3222+13T>C | ENSP00000501110.1:n.3222+13T>C | |
| ENST00000673882.1:c.3011+13T>C | ENSP00000501253.1:n.3011+13T>C | |
| ENST00000233242.5:c.3508+13T>C MANE Select | ENSP00000233242.1:n.3508+13T>C | |
| ENST00000616098.4:c.3508+13T>C | ENSP00000477990.1:n.3508+13T>C | |
| NM_000384.2:c.3508+13T>C | NP_000375.2:n.3508+13T>C | |
| XM_011532809.1:c.3508+13T>C | XP_011531111.1:n.3508+13T>C | |
| NM_000384.3:c.3508+13T>C MANE Select | NP_000375.3:n.3508+13T>C |