Linked Data
ClinVar Variation Id:
189102
dbSNP Id:
rs755529290
ExAC:
1:21900186 C / A
gnomAD v2:
1-21900186-C-A
gnomAD v3:
1-21573693-C-A
gnomAD v4:
1-21573693-C-A
PubMed:
PMID:20049532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21573693C>A , CM000663.2:g.21573693C>A | GRCh38 |
| NC_000001.10:g.21900186C>A , CM000663.1:g.21900186C>A | GRCh37 |
| NC_000001.9:g.21772773C>A | NCBI36 |
| NG_008940.1:g.69329C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.891C>A MANE Select | ENSP00000363973.3:p.Tyr297Ter | |
| ENST00000374830.2:c.73-2040C>A | ||
| ENST00000374832.5:c.891C>A | ENSP00000363965.1:p.Tyr297Ter | |
| ENST00000374840.7:c.891C>A | ENSP00000363973.3:p.Tyr297Ter | |
| ENST00000539907.5:c.660C>A | ENSP00000437674.1:p.Tyr220Ter | |
| ENST00000540617.5:c.726C>A | ENSP00000442672.1:p.Tyr242Ter | |
| NM_000478.4:c.891C>A | NP_000469.3:p.Tyr297Ter | |
| NM_001127501.2:c.726C>A | NP_001120973.2:p.Tyr242Ter | |
| NM_001177520.1:c.660C>A | NP_001170991.1:p.Tyr220Ter | |
| XM_005245818.1:c.891C>A | XP_005245875.1:p.Tyr297Ter | |
| XM_005245820.2:c.891C>A | XP_005245877.1:p.Tyr297Ter | |
| XM_006710546.1:c.891C>A | XP_006710609.1:p.Tyr297Ter | |
| NM_000478.5:c.891C>A | NP_000469.3:p.Tyr297Ter | |
| NM_001127501.3:c.726C>A | NP_001120973.2:p.Tyr242Ter | |
| NM_001177520.2:c.660C>A | NP_001170991.1:p.Tyr220Ter | |
| XM_006710546.3:c.891C>A | XP_006710609.1:p.Tyr297Ter | |
| XM_017000903.1:c.735C>A | XP_016856392.1:p.Tyr245Ter | |
| NM_000478.6:c.891C>A MANE Select | NP_000469.3:p.Tyr297Ter | |
| NM_001127501.4:c.726C>A | NP_001120973.2:p.Tyr242Ter | |
| NM_001177520.3:c.660C>A | NP_001170991.1:p.Tyr220Ter | |
| NM_001369803.2:c.891C>A | NP_001356732.1:p.Tyr297Ter | |
| NM_001369804.2:c.891C>A | NP_001356733.1:p.Tyr297Ter | |
| NM_001369805.2:c.891C>A | NP_001356734.1:p.Tyr297Ter |