Linked Data
ClinVar Variation Id:
1615626
ClinVar RCV Id:
RCV002081600
dbSNP Id:
rs774203818
MyVariant Identifiers:
chr4:g.6302743T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301016T>C , CM000666.2:g.6301016T>C | GRCh38 |
| NC_000004.11:g.6302743T>C , CM000666.1:g.6302743T>C | GRCh37 |
| NC_000004.10:g.6353644T>C | NCBI36 |
| NG_011700.1:g.36167T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1257T>C | ENSP00000507852.1:p.His419= | |
| ENST00000683395.1:c.1198T>C | ||
| ENST00000684087.1:c.1221T>C | ENSP00000506978.1:p.His407= | |
| ENST00000506362.2:c.972T>C | ENSP00000424103.2:p.His324= | |
| ENST00000673642.1:c.880T>C | ENSP00000501242.1:p.Phe294Leu | |
| ENST00000673991.1:c.1257T>C | ENSP00000501033.1:p.His419= | |
| ENST00000226760.5:c.1221T>C MANE Select | ENSP00000226760.1:p.His407= | |
| ENST00000503569.5:c.1221T>C | ENSP00000423337.1:p.His407= | |
| ENST00000507765.1:n.1406T>C | ||
| NM_001145853.1:c.1221T>C | NP_001139325.1:p.His407= | |
| NM_006005.3:c.1221T>C MANE Select | NP_005996.2:p.His407= | |
| XM_017008586.1:c.1230T>C | XP_016864075.1:p.His410= |