Linked Data
ClinVar Variation Id:
2389608
ClinVar RCV Id:
RCV004231747
dbSNP Id:
rs766823635
ExAC:
12:69140522 A / G
gnomAD v2:
12-69140522-A-G
gnomAD v3:
12-68746742-A-G
gnomAD v4:
12-68746742-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68746742A>G , CM000674.2:g.68746742A>G | GRCh38 |
| NC_000012.11:g.69140522A>G , CM000674.1:g.69140522A>G | GRCh37 |
| NC_000012.10:g.67426789A>G | NCBI36 |
| NG_046600.2:g.64792A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319429.7:n.608A>G | ||
| ENST00000398004.4:c.365A>G MANE Select | ENSP00000381089.2:p.Tyr122Cys | |
| ENST00000673712.1:c.365A>G | ENSP00000501065.1:p.Tyr122Cys | |
| ENST00000674096.1:c.365A>G | ENSP00000501130.1:p.Tyr122Cys | |
| ENST00000398004.3:c.365A>G | ENSP00000381089.2:p.Tyr122Cys | |
| NM_018656.2:c.365A>G | NP_061126.2:p.Tyr122Cys | |
| XM_005269006.2:c.365A>G | XP_005269063.1:p.Tyr122Cys | |
| NM_001354997.1:c.365A>G | NP_001341926.1:p.Tyr122Cys | |
| NM_001354998.1:c.365A>G | NP_001341927.1:p.Tyr122Cys | |
| NM_018656.3:c.365A>G | NP_061126.2:p.Tyr122Cys | |
| NR_149143.1:n.657A>G | ||
| NR_149144.1:n.657A>G | ||
| NM_001354997.3:c.365A>G | NP_001341926.1:p.Tyr122Cys | |
| NM_001354998.2:c.365A>G | NP_001341927.1:p.Tyr122Cys | |
| NM_018656.5:c.365A>G MANE Select | NP_061126.2:p.Tyr122Cys | |
| NR_149143.3:n.567A>G | ||
| NR_149144.3:n.567A>G |