Linked Data
ClinVar Variation Id:
1122487
ClinVar RCV Id:
RCV001453160
dbSNP Id:
rs765252900
ExAC:
4:100515920 A / G
gnomAD v2:
4-100515920-A-G
gnomAD v3:
4-99594763-A-G
gnomAD v4:
4-99594763-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99594763A>G , CM000666.2:g.99594763A>G | GRCh38 |
| NC_000004.11:g.100515920A>G , CM000666.1:g.100515920A>G | GRCh37 |
| NC_000004.10:g.100734943A>G | NCBI36 |
| NG_011469.1:g.35681A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.789A>G MANE Select | ENSP00000265517.5:p.Ala263= | |
| ENST00000457717.6:c.789A>G | ENSP00000400821.1:p.Ala263= | |
| ENST00000511045.6:c.540A>G | ENSP00000427679.2:p.Ala180= | |
| ENST00000265517.9:c.789A>G | ENSP00000265517.5:p.Ala263= | |
| ENST00000457717.5:c.789A>G | ENSP00000400821.1:p.Ala263= | |
| ENST00000511045.5:c.870A>G | ENSP00000427679.1:p.Ala290= | |
| ENST00000619629.1:c.789A>G | ENSP00000482850.1:p.Ala263= | |
| NM_000253.3:c.789A>G | NP_000244.2:p.Ala263= | |
| NM_001300785.1:c.870A>G | NP_001287714.1:p.Ala290= | |
| NM_000253.4:c.789A>G | NP_000244.2:p.Ala263= | |
| NM_001300785.2:c.540A>G | NP_001287714.2:p.Ala180= | |
| NM_001386140.1:c.789A>G MANE Select | NP_001373069.1:p.Ala263= |