Linked Data
ClinVar Variation Id:
726312
dbSNP Id:
rs141637184
ExAC:
1:11735151 C / T
gnomAD v2:
1-11735151-C-T
gnomAD v3:
1-11675094-C-T
gnomAD v4:
1-11675094-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11675094C>T , CM000663.2:g.11675094C>T | GRCh38 |
| NC_000001.10:g.11735151C>T , CM000663.1:g.11735151C>T | GRCh37 |
| NC_000001.9:g.11657738C>T | NCBI36 |
| NG_052907.1:g.21695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376664.11:n.1011G>A | ||
| ENST00000456915.2:c.582G>A | ENSP00000400982.2:p.Ser194= | |
| ENST00000697272.1:c.146G>A | ||
| ENST00000697273.1:c.*401G>A | ENSP00000513220.1:n.*401G>A | |
| ENST00000376692.9:c.582G>A MANE Select | ENSP00000365882.4:p.Ser194= | |
| ENST00000235310.7:c.582G>A | ENSP00000235310.2:p.Ser194= | |
| ENST00000376667.7:c.582G>A | ENSP00000365855.3:p.Ser194= | |
| ENST00000376669.9:c.621G>A | ENSP00000365857.5:p.Ser207= | |
| ENST00000376672.5:c.621G>A | ENSP00000365860.1:p.Ser207= | |
| ENST00000376692.8:c.582G>A | ENSP00000365882.4:p.Ser194= | |
| NM_001127325.1:c.582G>A | NP_001120797.1:p.Ser194= | |
| NM_006341.3:c.582G>A | NP_006332.3:p.Ser194= | |
| XM_011540507.1:c.582G>A | XP_011538809.1:p.Ser194= | |
| XM_024450407.1:c.672G>A | XP_024306175.1:p.Ser224= | |
| NM_006341.4:c.582G>A MANE Select | NP_006332.3:p.Ser194= | |
| NM_001127325.2:c.582G>A | NP_001120797.1:p.Ser194= |