Linked Data
ClinVar Variation Id:
480375
dbSNP Id:
rs1303065649
gnomAD v2:
10-89720854-A-G
gnomAD v4:
10-87961097-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961097A>G , CM000672.2:g.87961097A>G | GRCh38 |
| NC_000010.10:g.89720854A>G , CM000672.1:g.89720854A>G | GRCh37 |
| NC_000010.9:g.89710834A>G | NCBI36 |
| NG_007466.2:g.102659A>G , LRG_311:g.102659A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.1098A>G | ENSP00000514759.2:p.Arg366= | |
| ENST00000710265.1:c.1005A>G | ENSP00000518161.1:p.Arg335= | |
| ENST00000472832.3:c.1005A>G | ENSP00000483066.2:p.Arg335= | |
| ENST00000688158.2:n.1740A>G | ||
| ENST00000688922.2:c.*835A>G | ENSP00000508742.2:n.*835A>G | |
| ENST00000700021.1:c.960A>G | ENSP00000514757.1:p.Arg320= | |
| ENST00000700022.1:c.*344A>G | ENSP00000514758.1:n.*344A>G | |
| ENST00000700023.1:n.2163A>G | ||
| ENST00000700024.1:n.2397A>G | ||
| ENST00000700025.1:n.1774A>G | ||
| ENST00000700026.1:n.642A>G | ||
| ENST00000706954.1:c.1005A>G | ENSP00000516674.1:p.Arg335= | |
| ENST00000706955.1:c.*1040A>G | ENSP00000516675.1:n.*1040A>G | |
| ENST00000686459.1:c.*591A>G | ENSP00000508909.1:n.*591A>G | |
| ENST00000688158.1:c.*1116A>G | ENSP00000509254.1:n.*1116A>G | |
| ENST00000688308.1:c.1005A>G | ENSP00000508752.1:p.Arg335= | |
| ENST00000688922.1:c.926A>G | ||
| ENST00000693560.1:c.1524A>G | ENSP00000509861.1:p.Arg508= | |
| ENST00000371953.8:c.1005A>G MANE Select | ENSP00000361021.3:p.Arg335= | |
| ENST00000371953.7:c.1005A>G | ENSP00000361021.3:p.Arg335= | |
| ENST00000472832.2:c.432A>G | ENSP00000483066.1:p.Arg144= | |
| NM_000314.5:c.1005A>G | NP_000305.3:p.Arg335= | |
| NM_000314.6:c.1005A>G | NP_000305.3:p.Arg335= | |
| NM_001304717.2:c.1524A>G | NP_001291646.2:p.Arg508= | |
| NM_001304718.1:c.414A>G | NP_001291647.1:p.Arg138= | |
| XM_006717926.2:c.960A>G | XP_006717989.1:p.Arg320= | |
| XM_011539981.1:c.1005A>G | XP_011538283.1:p.Arg335= | |
| XM_011539982.1:c.909A>G | XP_011538284.1:p.Arg303= | |
| XR_945791.1:n.1575A>G | ||
| NM_000314.7:c.1005A>G | NP_000305.3:p.Arg335= | |
| NM_001304717.5:c.1524A>G | NP_001291646.4:p.Arg508= | |
| NM_001304718.2:c.414A>G | NP_001291647.1:p.Arg138= | |
| NM_000314.8:c.1005A>G MANE Select | NP_000305.3:p.Arg335= |