Linked Data
dbSNP Id:
rs777102747
ExAC:
6:167754615 T / G
gnomAD v2:
6-167754615-T-G
gnomAD v3:
6-167341127-T-G
gnomAD v4:
6-167341127-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341127T>G , CM000668.2:g.167341127T>G | GRCh38 |
| NC_000006.11:g.167754615T>G , CM000668.1:g.167754615T>G | GRCh37 |
| NC_000006.10:g.167674605T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1227T>G MANE Select | ENSP00000239587.5:p.His409Gln | |
| ENST00000649884.1:c.1008T>G | ENSP00000497040.1:p.His336Gln | |
| ENST00000239587.9:c.1227T>G | ENSP00000239587.5:p.His409Gln | |
| ENST00000515138.1:c.1227T>G | ENSP00000424130.1:p.His409Gln | |
| NM_031949.4:c.1227T>G | NP_114155.4:p.His409Gln | |
| XM_006715572.2:c.1008T>G | XP_006715635.1:p.His336Gln | |
| XM_006715572.4:c.1008T>G | XP_006715635.1:p.His336Gln | |
| NM_031949.5:c.1227T>G MANE Select | NP_114155.4:p.His409Gln |