Linked Data
dbSNP Id:
rs533306215
ExAC:
7:83036446 G / T
gnomAD v2:
7-83036446-G-T
gnomAD v3:
7-83407130-G-T
gnomAD v4:
7-83407130-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83407130G>T , CM000669.2:g.83407130G>T | GRCh38 |
| NC_000007.13:g.83036446G>T , CM000669.1:g.83036446G>T | GRCh37 |
| NC_000007.12:g.82874382G>T | NCBI36 |
| NG_021242.1:g.247034C>A | |
| NG_021242.2:g.247034C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.600C>A | ENSP00000405052.1:p.His200Gln | |
| ENST00000642232.1:c.780C>A | ENSP00000494064.1:p.His260Gln | |
| ENST00000643230.2:c.780C>A MANE Select | ENSP00000496491.1:p.His260Gln | |
| ENST00000643441.1:n.765C>A | ||
| ENST00000307792.7:c.780C>A | ENSP00000303212.3:p.His260Gln | |
| ENST00000427262.5:c.600C>A | ENSP00000405052.1:p.His200Gln | |
| NM_001178129.1:c.600C>A | NP_001171600.1:p.His200Gln | |
| NM_012431.2:c.780C>A | NP_036563.1:p.His260Gln | |
| XM_011516715.1:c.780C>A | XP_011515017.1:p.His260Gln | |
| NM_012431.3:c.780C>A MANE Select | NP_036563.1:p.His260Gln | |
| NM_001178129.2:c.600C>A | NP_001171600.1:p.His200Gln |