Linked Data
ClinVar Variation Id:
2446489
ClinVar RCV Id:
RCV003159319
dbSNP Id:
rs373451568
ExAC:
6:132182758 A / C
gnomAD v2:
6-132182758-A-C
gnomAD v4:
6-131861618-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131861618A>C , CM000668.2:g.131861618A>C | GRCh38 |
| NC_000006.11:g.132182758A>C , CM000668.1:g.132182758A>C | GRCh37 |
| NC_000006.10:g.132224451A>C | NCBI36 |
| NG_008206.1:g.58603A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647893.1:c.939A>C MANE Select | ENSP00000498074.1:p.Gln313His | |
| ENST00000650147.1:c.556A>C | ||
| ENST00000650437.1:c.430A>C | ||
| ENST00000360971.6:c.939A>C | ENSP00000354238.2:p.Gln313His | |
| ENST00000459624.1:n.9A>C | ||
| ENST00000513998.5:c.939A>C | ENSP00000422424.1:p.Gln313His | |
| NM_006208.2:c.939A>C | NP_006199.2:p.Gln313His | |
| NM_006208.3:c.939A>C MANE Select | NP_006199.2:p.Gln313His |