Linked Data
ClinVar Variation Id:
303937
dbSNP Id:
rs770213642
ExAC:
11:1861859 T / C
gnomAD v2:
11-1861859-T-C
gnomAD v3:
11-1840629-T-C
gnomAD v4:
11-1840629-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1840629T>C , CM000673.2:g.1840629T>C | GRCh38 |
| NC_000011.9:g.1861859T>C , CM000673.1:g.1861859T>C | GRCh37 |
| NC_000011.8:g.1818435T>C | NCBI36 |
| NG_011621.1:g.6627T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381911.6:c.159T>C MANE Select | ENSP00000371336.1:p.His53= | |
| ENST00000252898.11:c.159T>C | ENSP00000252898.7:p.His53= | |
| ENST00000381905.3:c.159T>C | ENSP00000371330.3:p.His53= | |
| ENST00000381906.5:c.159T>C | ENSP00000371331.1:p.His53= | |
| ENST00000381911.5:c.159T>C | ENSP00000371336.1:p.His53= | |
| ENST00000468473.1:n.329T>C | ||
| ENST00000617947.4:c.159T>C | ENSP00000481242.1:p.His53= | |
| NM_001145829.1:c.159T>C | NP_001139301.1:p.His53= | |
| NM_001145841.1:c.159T>C | NP_001139313.1:p.His53= | |
| NM_003282.3:c.159T>C | NP_003273.1:p.His53= | |
| NM_003282.4:c.159T>C MANE Select | NP_003273.1:p.His53= | |
| NM_001145829.2:c.159T>C | NP_001139301.1:p.His53= | |
| NM_001145841.2:c.159T>C | NP_001139313.1:p.His53= |