Linked Data
ClinVar Variation Id:
729748
dbSNP Id:
rs188044385
ExAC:
8:38003650 C / T
gnomAD v2:
8-38003650-C-T
gnomAD v3:
8-38146132-C-T
gnomAD v4:
8-38146132-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146132C>T , CM000670.2:g.38146132C>T | GRCh38 |
| NC_000008.10:g.38003650C>T , CM000670.1:g.38003650C>T | GRCh37 |
| NC_000008.9:g.38122807C>T | NCBI36 |
| NG_011827.1:g.9951G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.481G>A MANE Select | ENSP00000276449.3:p.Gly161Arg | |
| ENST00000276449.8:c.481G>A | ENSP00000276449.3:p.Gly161Arg | |
| ENST00000520114.1:n.968G>A | ||
| ENST00000522050.1:c.417G>A | ||
| NM_000349.2:c.481G>A | NP_000340.2:p.Gly161Arg | |
| XM_006716392.1:c.481G>A | XP_006716455.1:p.Gly161Arg | |
| NM_000349.3:c.481G>A MANE Select | NP_000340.2:p.Gly161Arg |