Linked Data
ClinVar Variation Id:
2900744
dbSNP Id:
rs764536092
ExAC:
1:11736137 G / A
gnomAD v2:
1-11736137-G-A
gnomAD v3:
1-11676080-G-A
gnomAD v4:
1-11676080-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11676080G>A , CM000663.2:g.11676080G>A | GRCh38 |
| NC_000001.10:g.11736137G>A , CM000663.1:g.11736137G>A | GRCh37 |
| NC_000001.9:g.11658724G>A | NCBI36 |
| NG_052907.1:g.20709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376664.11:n.508C>T | ||
| ENST00000456915.2:c.393C>T | ENSP00000400982.2:p.Ser131= | |
| ENST00000697273.1:c.*212C>T | ENSP00000513220.1:n.*212C>T | |
| ENST00000697274.1:c.393C>T | ENSP00000513221.1:p.Ser131= | |
| ENST00000376692.9:c.393C>T MANE Select | ENSP00000365882.4:p.Ser131= | |
| ENST00000235310.7:c.393C>T | ENSP00000235310.2:p.Ser131= | |
| ENST00000376664.10:n.478C>T | ||
| ENST00000376667.7:c.393C>T | ENSP00000365855.3:p.Ser131= | |
| ENST00000376669.9:c.432C>T | ENSP00000365857.5:p.Ser144= | |
| ENST00000376672.5:c.432C>T | ENSP00000365860.1:p.Ser144= | |
| ENST00000376692.8:c.393C>T | ENSP00000365882.4:p.Ser131= | |
| ENST00000445656.5:c.483C>T | ENSP00000411807.1:p.Ser161= | |
| ENST00000456915.1:c.393C>T | ENSP00000400982.1:p.Ser131= | |
| NM_001127325.1:c.393C>T | NP_001120797.1:p.Ser131= | |
| NM_006341.3:c.393C>T | NP_006332.3:p.Ser131= | |
| XM_011540507.1:c.393C>T | XP_011538809.1:p.Ser131= | |
| XM_024450407.1:c.483C>T | XP_024306175.1:p.Ser161= | |
| NM_006341.4:c.393C>T MANE Select | NP_006332.3:p.Ser131= | |
| NM_001127325.2:c.393C>T | NP_001120797.1:p.Ser131= |