Linked Data
ClinVar Variation Id:
465840
ClinVar RCV Id:
RCV000542084
dbSNP Id:
rs561758565
ExAC:
2:74688804 G / A
gnomAD v2:
2-74688804-G-A
gnomAD v3:
2-74461677-G-A
gnomAD v4:
2-74461677-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74461677G>A , CM000664.2:g.74461677G>A | GRCh38 |
| NC_000002.11:g.74688804G>A , CM000664.1:g.74688804G>A | GRCh37 |
| NC_000002.10:g.74542312G>A | NCBI36 |
| NG_008922.1:g.8734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690565.1:c.1856-38C>T | ENSP00000510501.1:n.1856-38C>T | |
| ENST00000691308.1:c.1076-38C>T | ENSP00000509583.1:n.1076-38C>T | |
| ENST00000448666.7:c.2112C>T MANE Select | ENSP00000410992.3:p.Pro704= | |
| ENST00000452063.7:c.1794C>T | ENSP00000388201.2:p.Pro598= | |
| ENST00000462443.2:c.1287C>T | ENSP00000497265.1:p.Pro429= | |
| ENST00000647723.1:c.2055C>T | ||
| ENST00000647753.1:c.*1405C>T | ENSP00000497318.1:n.*1405C>T | |
| ENST00000647771.1:c.*1600C>T | ENSP00000496788.1:n.*1600C>T | |
| ENST00000647915.1:c.*1405C>T | ENSP00000498123.1:n.*1405C>T | |
| ENST00000648768.1:n.2369C>T | ||
| ENST00000648810.1:c.1287C>T | ENSP00000496949.1:p.Pro429= | |
| ENST00000649075.1:c.*1040C>T | ENSP00000497836.1:n.*1040C>T | |
| ENST00000649601.1:c.*1292C>T | ENSP00000496796.1:n.*1292C>T | |
| ENST00000649777.1:n.2321C>T | ||
| ENST00000649854.1:c.1745C>T | ||
| ENST00000233616.8:c.2112C>T | ENSP00000233616.4:p.Pro704= | |
| ENST00000409065.5:c.*1292C>T | ENSP00000386493.1:n.*1292C>T | |
| ENST00000452063.6:c.1794C>T | ENSP00000388201.2:p.Pro598= | |
| ENST00000462189.1:n.1793C>T | ||
| NM_001146158.1:c.1794C>T | NP_001139630.1:p.Pro598= | |
| NM_006302.2:c.2112C>T | NP_006293.2:p.Pro704= | |
| NM_006302.3:c.2112C>T MANE Select | NP_006293.2:p.Pro704= | |
| NM_001146158.2:c.1794C>T | NP_001139630.1:p.Pro598= |