Linked Data
ClinVar Variation Id:
1022639
dbSNP Id:
rs759124324
ExAC:
14:50585159 T / C
gnomAD v2:
14-50585159-T-C
gnomAD v3:
14-50118441-T-C
gnomAD v4:
14-50118441-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118441T>C , CM000676.2:g.50118441T>C | GRCh38 |
| NC_000014.8:g.50585159T>C , CM000676.1:g.50585159T>C | GRCh37 |
| NC_000014.7:g.49654909T>C | NCBI36 |
| NG_051073.1:g.118253A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3902A>G MANE Select | ENSP00000216373.5:p.His1301Arg | |
| ENST00000216373.9:c.3902A>G | ENSP00000216373.5:p.His1301Arg | |
| ENST00000543680.5:c.3803A>G | ENSP00000445328.1:p.His1268Arg | |
| NM_006939.2:c.3902A>G | NP_008870.2:p.His1301Arg | |
| XM_005268021.1:c.3722A>G | XP_005268078.1:p.His1241Arg | |
| XM_011537103.1:c.3863A>G | XP_011535405.1:p.His1288Arg | |
| NM_006939.3:c.3902A>G | NP_008870.2:p.His1301Arg | |
| NM_006939.4:c.3902A>G MANE Select | NP_008870.2:p.His1301Arg |