Linked Data
ClinVar Variation Id:
2172421
ClinVar RCV Id:
RCV003083028
dbSNP Id:
rs774203818
ExAC:
4:6302743 T / G
gnomAD v2:
4-6302743-T-G
gnomAD v4:
4-6301016-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301016T>G , CM000666.2:g.6301016T>G | GRCh38 |
| NC_000004.11:g.6302743T>G , CM000666.1:g.6302743T>G | GRCh37 |
| NC_000004.10:g.6353644T>G | NCBI36 |
| NG_011700.1:g.36167T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1257T>G | ENSP00000507852.1:p.His419Gln | |
| ENST00000683395.1:c.1198T>G | ||
| ENST00000684087.1:c.1221T>G | ENSP00000506978.1:p.His407Gln | |
| ENST00000506362.2:c.972T>G | ENSP00000424103.2:p.His324Gln | |
| ENST00000673642.1:c.880T>G | ENSP00000501242.1:p.Phe294Val | |
| ENST00000673991.1:c.1257T>G | ENSP00000501033.1:p.His419Gln | |
| ENST00000226760.5:c.1221T>G MANE Select | ENSP00000226760.1:p.His407Gln | |
| ENST00000503569.5:c.1221T>G | ENSP00000423337.1:p.His407Gln | |
| ENST00000507765.1:n.1406T>G | ||
| NM_001145853.1:c.1221T>G | NP_001139325.1:p.His407Gln | |
| NM_006005.3:c.1221T>G MANE Select | NP_005996.2:p.His407Gln | |
| XM_017008586.1:c.1230T>G | XP_016864075.1:p.His410Gln |