Linked Data
ClinVar Variation Id:
762545
dbSNP Id:
rs121909231
gnomAD v3:
10-87961095-C-A
gnomAD v4:
10-87961095-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961095C>A , CM000672.2:g.87961095C>A | GRCh38 |
| NC_000010.10:g.89720852C>A , CM000672.1:g.89720852C>A | GRCh37 |
| NC_000010.9:g.89710832C>A | NCBI36 |
| NG_007466.2:g.102657C>A , LRG_311:g.102657C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.1096C>A | ENSP00000514759.2:p.Arg366= | |
| ENST00000710265.1:c.1003C>A | ENSP00000518161.1:p.Arg335= | |
| ENST00000472832.3:c.1003C>A | ENSP00000483066.2:p.Arg335= | |
| ENST00000688158.2:n.1738C>A | ||
| ENST00000688922.2:c.*833C>A | ENSP00000508742.2:n.*833C>A | |
| ENST00000700021.1:c.958C>A | ENSP00000514757.1:p.Arg320= | |
| ENST00000700022.1:c.*342C>A | ENSP00000514758.1:n.*342C>A | |
| ENST00000700023.1:n.2161C>A | ||
| ENST00000700024.1:n.2395C>A | ||
| ENST00000700025.1:n.1772C>A | ||
| ENST00000700026.1:n.640C>A | ||
| ENST00000706954.1:c.1003C>A | ENSP00000516674.1:p.Arg335= | |
| ENST00000706955.1:c.*1038C>A | ENSP00000516675.1:n.*1038C>A | |
| ENST00000686459.1:c.*589C>A | ENSP00000508909.1:n.*589C>A | |
| ENST00000688158.1:c.*1114C>A | ENSP00000509254.1:n.*1114C>A | |
| ENST00000688308.1:c.1003C>A | ENSP00000508752.1:p.Arg335= | |
| ENST00000688922.1:c.924C>A | ||
| ENST00000693560.1:c.1522C>A | ENSP00000509861.1:p.Arg508= | |
| ENST00000371953.8:c.1003C>A MANE Select | ENSP00000361021.3:p.Arg335= | |
| ENST00000371953.7:c.1003C>A | ENSP00000361021.3:p.Arg335= | |
| ENST00000472832.2:c.430C>A | ENSP00000483066.1:p.Arg144= | |
| NM_000314.5:c.1003C>A | NP_000305.3:p.Arg335= | |
| NM_000314.6:c.1003C>A | NP_000305.3:p.Arg335= | |
| NM_001304717.2:c.1522C>A | NP_001291646.2:p.Arg508= | |
| NM_001304718.1:c.412C>A | NP_001291647.1:p.Arg138= | |
| XM_006717926.2:c.958C>A | XP_006717989.1:p.Arg320= | |
| XM_011539981.1:c.1003C>A | XP_011538283.1:p.Arg335= | |
| XM_011539982.1:c.907C>A | XP_011538284.1:p.Arg303= | |
| XR_945791.1:n.1573C>A | ||
| NM_000314.7:c.1003C>A | NP_000305.3:p.Arg335= | |
| NM_001304717.5:c.1522C>A | NP_001291646.4:p.Arg508= | |
| NM_001304718.2:c.412C>A | NP_001291647.1:p.Arg138= | |
| NM_000314.8:c.1003C>A MANE Select | NP_000305.3:p.Arg335= |