Linked Data
ClinVar Variation Id:
2342261
ClinVar RCV Id:
RCV002926198
dbSNP Id:
rs147463305
ExAC:
1:152283018 A / C
gnomAD v2:
1-152283018-A-C
gnomAD v3:
1-152310542-A-C
gnomAD v4:
1-152310542-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310542A>C , CM000663.2:g.152310542A>C | GRCh38 |
| NC_000001.10:g.152283018A>C , CM000663.1:g.152283018A>C | GRCh37 |
| NC_000001.9:g.150549642A>C | NCBI36 |
| NG_016190.1:g.19662T>G , LRG_1028:g.19662T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.4344T>G MANE Select | ENSP00000357789.1:p.His1448Gln | |
| ENST00000368799.1:c.4344T>G | ENSP00000357789.1:p.His1448Gln | |
| NM_002016.1:c.4344T>G , LRG_1028t1:c.4344T>G | NP_002007.1:p.His1448Gln | |
| XM_011509329.1:c.4344T>G | XP_011507631.1:p.His1448Gln | |
| NM_002016.2:c.4344T>G MANE Select | NP_002007.1:p.His1448Gln |