Linked Data
ClinVar Variation Id:
2093260
ClinVar RCV Id:
RCV003009988
dbSNP Id:
rs1221589316
gnomAD v2:
7-44191919-T-C
gnomAD v4:
7-44152320-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44152320T>C , CM000669.2:g.44152320T>C | GRCh38 |
| NC_000007.13:g.44191919T>C , CM000669.1:g.44191919T>C | GRCh37 |
| NC_000007.12:g.44158444T>C | NCBI36 |
| NG_008847.1:g.42104A>G | |
| NG_008847.2:g.50851A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*312A>G | ENSP00000379142.4:n.*312A>G | |
| ENST00000616242.5:c.314A>G | ENSP00000482149.2:p.His105Arg | |
| ENST00000682635.1:n.800A>G | ||
| ENST00000345378.7:c.317A>G | ENSP00000223366.2:p.His106Arg | |
| ENST00000403799.8:c.314A>G MANE Select | ENSP00000384247.3:p.His105Arg | |
| ENST00000671824.1:c.314A>G | ENSP00000500264.1:p.His105Arg | |
| ENST00000673284.1:c.314A>G | ENSP00000499852.1:p.His105Arg | |
| ENST00000345378.6:c.317A>G | ENSP00000223366.2:p.His106Arg | |
| ENST00000395796.7:c.311A>G | ENSP00000379142.3:p.His104Arg | |
| ENST00000403799.7:c.314A>G | ENSP00000384247.3:p.His105Arg | |
| ENST00000437084.1:c.314A>G | ENSP00000402840.1:p.His105Arg | |
| ENST00000616242.4:c.311A>G | ENSP00000482149.1:p.His104Arg | |
| NM_000162.3:c.314A>G | NP_000153.1:p.His105Arg | |
| NM_033507.1:c.317A>G | NP_277042.1:p.His106Arg | |
| NM_033508.1:c.311A>G | NP_277043.1:p.His104Arg | |
| NM_000162.4:c.314A>G | NP_000153.1:p.His105Arg | |
| NM_001354800.1:c.314A>G | NP_001341729.1:p.His105Arg | |
| NM_033507.2:c.317A>G | NP_277042.1:p.His106Arg | |
| NM_033508.2:c.311A>G | NP_277043.1:p.His104Arg | |
| NM_000162.5:c.314A>G MANE Select | NP_000153.1:p.His105Arg | |
| NM_033507.3:c.317A>G | NP_277042.1:p.His106Arg | |
| NM_033508.3:c.311A>G | NP_277043.1:p.His104Arg |