Linked Data
dbSNP Id:
rs781295806
ExAC:
6:167754906 A / C
gnomAD v2:
6-167754906-A-C
gnomAD v4:
6-167341418-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341418A>C , CM000668.2:g.167341418A>C | GRCh38 |
| NC_000006.11:g.167754906A>C , CM000668.1:g.167754906A>C | GRCh37 |
| NC_000006.10:g.167674896A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1518A>C MANE Select | ENSP00000239587.5:p.Gln506His | |
| ENST00000649884.1:c.1299A>C | ENSP00000497040.1:p.Gln433His | |
| ENST00000239587.9:c.1518A>C | ENSP00000239587.5:p.Gln506His | |
| ENST00000515138.1:c.1518A>C | ENSP00000424130.1:p.Gln506His | |
| NM_031949.4:c.1518A>C | NP_114155.4:p.Gln506His | |
| XM_006715572.2:c.1299A>C | XP_006715635.1:p.Gln433His | |
| XM_006715572.4:c.1299A>C | XP_006715635.1:p.Gln433His | |
| NM_031949.5:c.1518A>C MANE Select | NP_114155.4:p.Gln506His |