Linked Data
ClinVar Variation Id:
210502
dbSNP Id:
rs201030692
ExAC:
6:16327921 C / A
gnomAD v2:
6-16327921-C-A
gnomAD v3:
6-16327690-C-A
gnomAD v4:
6-16327690-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16327690C>A , CM000668.2:g.16327690C>A | GRCh38 |
| NC_000006.11:g.16327921C>A , CM000668.1:g.16327921C>A | GRCh37 |
| NC_000006.10:g.16435900C>A | NCBI36 |
| NG_011571.1:g.438801G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436367.6:c.621G>T MANE Select | ENSP00000416360.1:p.Gln207His | |
| ENST00000244769.8:c.621G>T | ENSP00000244769.3:p.Gln207His | |
| ENST00000436367.5:c.621G>T | ENSP00000416360.1:p.Gln207His | |
| NM_000332.3:c.621G>T | NP_000323.2:p.Gln207His | |
| NM_001128164.1:c.621G>T | NP_001121636.1:p.Gln207His | |
| NM_001357857.1:c.*34G>T | NP_001344786.1:n.*34G>T | |
| NM_001357857.2:c.*34G>T | NP_001344786.1:n.*34G>T | |
| NM_001128164.2:c.621G>T MANE Select | NP_001121636.1:p.Gln207His | |
| NM_000332.4:c.621G>T | NP_000323.2:p.Gln207His |