Linked Data
ClinVar Variation Id:
342932
dbSNP Id:
rs17843835
ExAC:
3:124458926 A / G
gnomAD v2:
3-124458926-A-G
gnomAD v3:
3-124740079-A-G
gnomAD v4:
3-124740079-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124740079A>G , CM000665.2:g.124740079A>G | GRCh38 |
| NC_000003.11:g.124458926A>G , CM000665.1:g.124458926A>G | GRCh37 |
| NC_000003.10:g.125941616A>G | NCBI36 |
| NG_017037.1:g.14714A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.1038A>G MANE Select | ENSP00000232607.2:p.Pro346= | |
| ENST00000232607.6:c.1038A>G | ENSP00000232607.2:p.Pro346= | |
| ENST00000460034.5:c.*782A>G | ENSP00000420409.1:n.*782A>G | |
| ENST00000462091.5:c.*710A>G | ENSP00000417893.1:n.*710A>G | |
| ENST00000467167.5:c.*936A>G | ENSP00000419618.1:n.*936A>G | |
| ENST00000474588.5:c.*262A>G | ENSP00000420348.1:n.*262A>G | |
| ENST00000479719.5:c.*213A>G | ENSP00000420754.1:n.*213A>G | |
| ENST00000487622.5:n.165A>G | ||
| ENST00000495751.1:n.167A>G | ||
| ENST00000497791.5:c.*654+1840A>G | ENSP00000419121.1:n.*654+1840A>G | |
| NM_000373.3:c.1038A>G | NP_000364.1:p.Pro346= | |
| NR_033434.1:n.990A>G | ||
| NR_033437.1:n.1243A>G | ||
| XR_001740253.2:n.1272A>G | ||
| NM_000373.4:c.1038A>G MANE Select | NP_000364.1:p.Pro346= | |
| NR_033434.2:n.904A>G | ||
| NR_033437.2:n.1157A>G |