Linked Data
ClinVar Variation Id:
1792412
ClinVar RCV Id:
RCV002432943
MyVariant Identifiers:
chr10:g.89725118A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965361A>C , CM000672.2:g.87965361A>C | GRCh38 |
| NC_000010.10:g.89725118A>C , CM000672.1:g.89725118A>C | GRCh37 |
| NC_000010.9:g.89715098A>C | NCBI36 |
| NG_007466.2:g.106923A>C , LRG_311:g.106923A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1194A>C | ENSP00000514759.2:p.Pro398= | |
| ENST00000710265.1:c.*130A>C | ENSP00000518161.1:n.*130A>C | |
| ENST00000688158.2:n.1836A>C | ||
| ENST00000688922.2:c.*931A>C | ENSP00000508742.2:n.*931A>C | |
| ENST00000700021.1:c.1056A>C | ENSP00000514757.1:p.Pro352= | |
| ENST00000700022.1:c.*440A>C | ENSP00000514758.1:n.*440A>C | |
| ENST00000700023.1:n.2259A>C | ||
| ENST00000700024.1:n.2493A>C | ||
| ENST00000706954.1:c.1101A>C | ENSP00000516674.1:p.Pro367= | |
| ENST00000706955.1:c.*1136A>C | ENSP00000516675.1:n.*1136A>C | |
| ENST00000686459.1:c.*687A>C | ENSP00000508909.1:n.*687A>C | |
| ENST00000688158.1:c.*1212A>C | ENSP00000509254.1:n.*1212A>C | |
| ENST00000688308.1:c.1101A>C | ENSP00000508752.1:p.Pro367= | |
| ENST00000688922.1:c.1022A>C | ||
| ENST00000693560.1:c.1620A>C | ENSP00000509861.1:p.Pro540= | |
| ENST00000371953.8:c.1101A>C MANE Select | ENSP00000361021.3:p.Pro367= | |
| ENST00000371953.7:c.1101A>C | ENSP00000361021.3:p.Pro367= | |
| NM_000314.5:c.1101A>C | NP_000305.3:p.Pro367= | |
| NM_000314.6:c.1101A>C | NP_000305.3:p.Pro367= | |
| NM_001304717.2:c.1620A>C | NP_001291646.2:p.Pro540= | |
| NM_001304718.1:c.510A>C | NP_001291647.1:p.Pro170= | |
| XM_006717926.2:c.1056A>C | XP_006717989.1:p.Pro352= | |
| XM_011539982.1:c.1005A>C | XP_011538284.1:p.Pro335= | |
| XR_945791.1:n.1671A>C | ||
| NM_000314.7:c.1101A>C | NP_000305.3:p.Pro367= | |
| NM_001304717.5:c.1620A>C | NP_001291646.4:p.Pro540= | |
| NM_001304718.2:c.510A>C | NP_001291647.1:p.Pro170= | |
| NM_000314.8:c.1101A>C MANE Select | NP_000305.3:p.Pro367= |