Linked Data
dbSNP Id:
rs761042153
ExAC:
4:100239320 G / T
gnomAD v2:
4-100239320-G-T
gnomAD v3:
4-99318163-G-T
gnomAD v4:
4-99318163-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99318163G>T , CM000666.2:g.99318163G>T | GRCh38 |
| NC_000004.11:g.100239320G>T , CM000666.1:g.100239320G>T | GRCh37 |
| NC_000004.10:g.100458343G>T | NCBI36 |
| NG_011435.1:g.8253C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305046.13:c.142C>A MANE Select | ENSP00000306606.8:p.His48Asn | |
| ENST00000639454.1:c.142C>A | ENSP00000491622.1:p.His48Asn | |
| ENST00000305046.12:c.142C>A | ENSP00000306606.8:p.His48Asn | |
| ENST00000504498.1:n.196C>A | ||
| ENST00000506651.5:c.22C>A | ENSP00000425998.2:p.His8Asn | |
| ENST00000515694.4:n.2237C>A | ||
| ENST00000625860.2:c.22C>A | ENSP00000486614.1:p.His8Asn | |
| ENST00000632775.1:n.705C>A | ||
| NM_000668.5:c.142C>A | NP_000659.2:p.His48Asn | |
| NM_001286650.1:c.22C>A | NP_001273579.1:p.His8Asn | |
| NM_000668.6:c.142C>A MANE Select | NP_000659.2:p.His48Asn | |
| NM_001286650.2:c.22C>A | NP_001273579.1:p.His8Asn |