Linked Data
dbSNP Id:
rs761042153
ExAC:
4:100239320 G / A
gnomAD v2:
4-100239320-G-A
gnomAD v3:
4-99318163-G-A
gnomAD v4:
4-99318163-G-A
COSMIC:
COSM3598577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99318163G>A , CM000666.2:g.99318163G>A | GRCh38 |
| NC_000004.11:g.100239320G>A , CM000666.1:g.100239320G>A | GRCh37 |
| NC_000004.10:g.100458343G>A | NCBI36 |
| NG_011435.1:g.8253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.142C>T MANE Select | ENSP00000306606.8:p.His48Tyr | |
| ENST00000639454.1:c.142C>T | ENSP00000491622.1:p.His48Tyr | |
| ENST00000305046.12:c.142C>T | ENSP00000306606.8:p.His48Tyr | |
| ENST00000504498.1:n.196C>T | ||
| ENST00000506651.5:c.22C>T | ENSP00000425998.2:p.His8Tyr | |
| ENST00000515694.4:n.2237C>T | ||
| ENST00000625860.2:c.22C>T | ENSP00000486614.1:p.His8Tyr | |
| ENST00000632775.1:n.705C>T | ||
| NM_000668.5:c.142C>T | NP_000659.2:p.His48Tyr | |
| NM_001286650.1:c.22C>T | NP_001273579.1:p.His8Tyr | |
| NM_000668.6:c.142C>T MANE Select | NP_000659.2:p.His48Tyr | |
| NM_001286650.2:c.22C>T | NP_001273579.1:p.His8Tyr |