Linked Data
ClinVar Variation Id:
2203522
ClinVar RCV Id:
RCV002651810
dbSNP Id:
rs761976067
ExAC:
4:6303104 T / C
gnomAD v2:
4-6303104-T-C
gnomAD v4:
4-6301377-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301377T>C , CM000666.2:g.6301377T>C | GRCh38 |
| NC_000004.11:g.6303104T>C , CM000666.1:g.6303104T>C | GRCh37 |
| NC_000004.10:g.6354005T>C | NCBI36 |
| NG_011700.1:g.36528T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1618T>C | ENSP00000507852.1:p.Tyr540His | |
| ENST00000683395.1:c.1559T>C | ||
| ENST00000684087.1:c.1582T>C | ENSP00000506978.1:p.Tyr528His | |
| ENST00000506362.2:c.1333T>C | ENSP00000424103.2:p.Tyr445His | |
| ENST00000673642.1:c.1241T>C | ENSP00000501242.1:p.Leu414Pro | |
| ENST00000673991.1:c.1618T>C | ENSP00000501033.1:p.Tyr540His | |
| ENST00000226760.5:c.1582T>C MANE Select | ENSP00000226760.1:p.Tyr528His | |
| ENST00000503569.5:c.1582T>C | ENSP00000423337.1:p.Tyr528His | |
| ENST00000507765.1:n.1767T>C | ||
| NM_001145853.1:c.1582T>C | NP_001139325.1:p.Tyr528His | |
| NM_006005.3:c.1582T>C MANE Select | NP_005996.2:p.Tyr528His | |
| XM_017008586.1:c.1591T>C | XP_016864075.1:p.Tyr531His |