Linked Data
ClinVar Variation Id:
2880821
ClinVar RCV Id:
RCV003715567
dbSNP Id:
rs745431742
ExAC:
1:205138571 G / C
gnomAD v2:
1-205138571-G-C
gnomAD v4:
1-205169443-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205169443G>C , CM000663.2:g.205169443G>C | GRCh38 |
| NC_000001.10:g.205138571G>C , CM000663.1:g.205138571G>C | GRCh37 |
| NC_000001.9:g.203405194G>C | NCBI36 |
| NG_033904.1:g.47157C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367162.8:c.1044C>G MANE Select | ENSP00000356130.3:p.His348Gln | |
| ENST00000367161.7:c.1044C>G | ENSP00000356129.3:p.His348Gln | |
| ENST00000367162.7:c.1044C>G | ENSP00000356130.3:p.His348Gln | |
| ENST00000615388.1:c.-90+3594C>G | ENSP00000478016.1:n.-90+3594C>G | |
| NM_015375.2:c.1044C>G | NP_056190.1:p.His348Gln | |
| NM_199462.2:c.1044C>G | NP_955749.1:p.His348Gln | |
| XM_011509392.1:c.1017C>G | XP_011507694.1:p.His339Gln | |
| XM_011509393.1:c.459C>G | XP_011507695.1:p.His153Gln | |
| XM_011509394.1:c.417C>G | XP_011507696.1:p.His139Gln | |
| XM_011509392.2:c.1017C>G | XP_011507694.1:p.His339Gln | |
| XM_011509393.2:c.459C>G | XP_011507695.1:p.His153Gln | |
| XM_011509394.2:c.417C>G | XP_011507696.1:p.His139Gln | |
| NM_015375.3:c.1044C>G MANE Select | NP_056190.1:p.His348Gln | |
| NM_199462.3:c.1044C>G | NP_955749.1:p.His348Gln |