Linked Data
ClinVar Variation Id:
2223
ClinVar RCV Id:
RCV003891425
dbSNP Id:
rs5030809
gnomAD v2:
3-10183823-T-C
gnomAD v4:
3-10142139-T-C
PCER:
P-CER:CA020246/193300
PubMed:
PMID:7728151
PMID:7759077
PMID:7784063
PMID:7977367
PMID:7987306
PMID:8707293
PMID:9880225
PMID:10458336
PMID:10567493
PMID:10900011
PMID:11483638
PMID:11709017
PMID:12000816
PMID:12351569
PMID:12510195
PMID:15300849
PMID:16314641
PMID:17406817
PMID:17526729
PMID:18544564
PMID:19280651
PMID:19336503
PMID:19602254
PMID:21204227
PMID:25371412
CIViC:
CA020246
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142139T>C , CM000665.2:g.10142139T>C | GRCh38 |
| NC_000003.11:g.10183823T>C , CM000665.1:g.10183823T>C | GRCh37 |
| NC_000003.10:g.10158823T>C | NCBI36 |
| NG_008212.3:g.5505T>C , LRG_322:g.5505T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.292T>C | ENSP00000512434.1:p.Tyr98His | |
| ENST00000696143.1:c.292T>C | ENSP00000512435.1:p.Tyr98His | |
| ENST00000696153.1:c.292T>C | ENSP00000512444.1:p.Tyr98His | |
| ENST00000256474.3:c.292T>C MANE Select | ENSP00000256474.3:p.Tyr98His | |
| ENST00000256474.2:c.292T>C | ENSP00000256474.2:p.Tyr98His | |
| ENST00000345392.2:c.292T>C | ENSP00000344757.2:p.Tyr98His | |
| NM_000551.3:c.292T>C , LRG_322t1:c.292T>C | NP_000542.1:p.Tyr98His | |
| NM_198156.2:c.292T>C | NP_937799.1:p.Tyr98His | |
| XM_011534078.1:c.292T>C | XP_011532380.1:p.Tyr98His | |
| NM_001354723.1:c.292T>C | NP_001341652.1:p.Tyr98His | |
| NM_000551.4:c.292T>C MANE Select | NP_000542.1:p.Tyr98His | |
| NM_001354723.2:c.292T>C | NP_001341652.1:p.Tyr98His | |
| NM_198156.3:c.292T>C | NP_937799.1:p.Tyr98His |