Linked Data
ClinVar Variation Id:
336743
dbSNP Id:
rs140622968
ExAC:
2:62069325 C / A
gnomAD v2:
2-62069325-C-A
gnomAD v3:
2-61842190-C-A
gnomAD v4:
2-61842190-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61842190C>A , CM000664.2:g.61842190C>A | GRCh38 |
| NC_000002.11:g.62069325C>A , CM000664.1:g.62069325C>A | GRCh37 |
| NC_000002.10:g.61922829C>A | NCBI36 |
| NG_028125.1:g.16954G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.354G>T MANE Select | ENSP00000385158.1:p.Gln118His | |
| ENST00000307507.3:c.*364G>T | ENSP00000303170.3:n.*364G>T | |
| ENST00000404929.5:c.354G>T | ENSP00000385158.1:p.Gln118His | |
| ENST00000405894.3:c.354G>T | ENSP00000385893.3:p.Gln118His | |
| ENST00000418113.5:c.341G>T | ||
| ENST00000456262.5:c.354G>T | ENSP00000396105.1:p.Gln118His | |
| NM_001201543.1:c.354G>T | NP_001188472.1:p.Gln118His | |
| NM_032180.2:c.354G>T | NP_115556.2:p.Gln118His | |
| NR_037710.1:n.456G>T | ||
| XR_939724.1:n.1715G>T | ||
| XM_017005072.1:c.27G>T | XP_016860561.1:p.Gln9His | |
| XM_017005073.1:c.-161G>T | XP_016860562.1:n.-161G>T | |
| XM_017005074.1:c.-161G>T | XP_016860563.1:n.-161G>T | |
| XR_001738972.2:n.355G>T | ||
| XR_001738973.2:n.355G>T | ||
| XR_001738974.2:n.355G>T | ||
| XR_001738975.2:n.355G>T | ||
| XR_001738976.1:n.439G>T | ||
| XR_001738977.1:n.439G>T | ||
| NM_001201543.2:c.354G>T MANE Select | NP_001188472.1:p.Gln118His | |
| NM_032180.3:c.354G>T | NP_115556.2:p.Gln118His | |
| NR_037710.2:n.373G>T |