Linked Data
ClinVar Variation Id:
1514
ClinVar RCV Id:
RCV000001578
dbSNP Id:
rs118204089
PubMed:
PMID:9886305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155295555G>T , CM000663.2:g.155295555G>T | GRCh38 |
| NC_000001.10:g.155265346G>T , CM000663.1:g.155265346G>T | GRCh37 |
| NC_000001.9:g.153531970G>T | NCBI36 |
| NG_011677.1:g.10880C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342741.6:c.389C>A MANE Select | ENSP00000339933.4:p.Ser130Tyr | |
| ENST00000434082.3:c.197C>A | ENSP00000398037.3:p.Ser66Tyr | |
| ENST00000342741.4:c.389C>A | ENSP00000339933.4:p.Ser130Tyr | |
| ENST00000392414.7:c.296C>A | ENSP00000376214.3:p.Ser99Tyr | |
| ENST00000434082.2:c.294C>A | ENSP00000398037.2:n.294C>A | |
| NM_000298.5:c.389C>A | NP_000289.1:p.Ser130Tyr | |
| NM_181871.3:c.296C>A | NP_870986.1:p.Ser99Tyr | |
| XM_005245266.3:c.548C>A | XP_005245323.1:p.Ser183Tyr | |
| XM_006711386.2:c.197C>A | XP_006711449.1:p.Ser66Tyr | |
| XM_011509639.1:c.548C>A | XP_011507941.1:p.Ser183Tyr | |
| XM_011509640.1:c.197C>A | XP_011507942.1:p.Ser66Tyr | |
| NM_000298.6:c.389C>A MANE Select | NP_000289.1:p.Ser130Tyr | |
| XM_006711386.4:c.197C>A | XP_006711449.1:p.Ser66Tyr | |
| XM_011509640.3:c.197C>A | XP_011507942.1:p.Ser66Tyr | |
| XM_017001493.1:c.389C>A | XP_016856982.1:p.Ser130Tyr | |
| NM_181871.4:c.296C>A | NP_870986.1:p.Ser99Tyr |