Linked Data
dbSNP Id:
rs1229984
ExAC:
4:100239319 T / C
gnomAD v2:
4-100239319-T-C
gnomAD v3:
4-99318162-T-C
gnomAD v4:
4-99318162-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99318162T>C , CM000666.2:g.99318162T>C | GRCh38 |
| NC_000004.11:g.100239319T>C , CM000666.1:g.100239319T>C | GRCh37 |
| NC_000004.10:g.100458342T>C | NCBI36 |
| NG_011435.1:g.8254A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305046.13:c.143A>G MANE Select | ENSP00000306606.8:p.His48Arg | |
| ENST00000639454.1:c.143A>G | ENSP00000491622.1:p.His48Arg | |
| ENST00000305046.12:c.143A>G | ENSP00000306606.8:p.His48Arg | |
| ENST00000504498.1:n.197A>G | ||
| ENST00000506651.5:c.23A>G | ENSP00000425998.2:p.His8Arg | |
| ENST00000515694.4:n.2238A>G | ||
| ENST00000625860.2:c.23A>G | ENSP00000486614.1:p.His8Arg | |
| ENST00000632775.1:n.706A>G | ||
| NM_000668.5:c.143A>G | NP_000659.2:p.His48Arg | |
| NM_001286650.1:c.23A>G | NP_001273579.1:p.His8Arg | |
| NM_000668.6:c.143A>G MANE Select | NP_000659.2:p.His48Arg | |
| NM_001286650.2:c.23A>G | NP_001273579.1:p.His8Arg |